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
PEX12	5193	broad.mit.edu	37	17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-	rs61752110		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12			18					ATTTTGGGTAAGAGGGGAGAAT	0.470000																								0		GRCh37	CD982877	PEX12	D		SO:0001589	frameshift_variant			ENST00000225873.4	1	1	hg19	CCDS11296.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	1	0	0	45	413	0	77	1	3.026300e-01	2	9	0	77	2	0	1.879608e-13	0	1	0	0	2	1	0.929685	54	411	3	77	34	0	0	0	0	0	0		-3.318794	1	0	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.330000	2.500000e-01	0.440000	0.340000	0.346295	0.330000	0	2.900000e-01	3.900000e-01
LUZP1	7798	broad.mit.edu	37	1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1			31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)			TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351000																								0							SO:0001589	frameshift_variant			ENST00000302291.4	1	1	hg19	CCDS30628.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	1	0	0	39	200	0	55			0	0	0	55				0	0	0	0		1	1.000000	55	214	0	55	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	2.104551	0	0.570000	1.770000	0.565041	0.560000	4.100000e-01	0.730000	0.570000	0.573884	0.560000	0	4.800000e-01	6.500000e-01
CCDC147	0	broad.mit.edu	37	10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN				52		Colorectal(252;0.103)|Breast(234;0.122)			AATGAAAAGCGTCTGATGGCC	0.423000																								0							SO:0001583	missense			ENST00000369704.3	1	1	hg19	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288041	0.80803	.	.	ENSG00000120051	ENST00000369704	T	0.37058	1.22	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.91090	3.175	0.80722	D	1	P	0.46020	0.871	B	0.42214	0.38	T	0.62718	-0.6795	10	0.52906	T	0.07	-6.117	15.0736	0.72059	0.0699:0.0:0.9301:0.0	.	59	Q5T655	CC147_HUMAN	H	59	ENSP00000358718:R59H	ENSP00000358718:R59H	R	+	2	0	CCDC147	106108255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.732000	0.74790	2.785000	0.95823	0.655000	0.94253	CGT		TCGA-OE-A75W-01A-12D-A32N-08	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1	1	0	0	24	291	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	24	289	0	51	2		0	0	0	0	52	2	-20.000000	1	1	121412	1	31	1	1	2	3	2.213635	0	0.570000	1.770000	0.577229	0.270000	1.700000e-01	1.000000	0.270000	0.314576	0.270000	0	2.200000e-01	3.500000e-01
ATRNL1	26033	broad.mit.edu	37	10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			ACAGGAAAATGTTTCTGCACA	0.343000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976281|3.976281	0.74360|0.74360	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.62105|.	0.05;0.05|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (1);|.	0.087453|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.78314|.	0.991;0.991|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.87932|.	D|.	0|.	-20.6284|-20.6284	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;1076|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	Y|I	1076;127|159	ENSP00000347152:C1076Y;ENSP00000409624:C127Y|.	ENSP00000347152:C1076Y|.	C|M	+|+	2|3	0|0	ATRNL1|ATRNL1	117144210|117144210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGT|ATG		TCGA-OE-A75W-01A-12D-A32N-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1	79	194	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	76	193	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	2.213635	0	0.570000	1.770000	0.577229	0.990000	8.400000e-01	1.000000	1.000000	0.977569	0.990000	1	9.300000e-01	1
KIAA1217	56243	broad.mit.edu	37	10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000376454.3	+	17	3536	c.3506G>A	c.(3505-3507)gGc>gAc	p.G1169D	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G852D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					ACTAGGTCGGGCGCCACAGTG	0.512000																								0							SO:0001583	missense			ENST00000376454.3	0	1	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814941	0.50527	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.56275	1.1;1.47;1.08;0.54;0.47;0.97	5.62	4.66	0.58398	.	0.130328	0.51477	D	0.000091	T	0.66684	0.2814	M	0.68593	2.085	0.45662	D	0.998584	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;0.968;0.999	P;D;D;D;P;D	0.75020	0.9;0.974;0.985;0.963;0.733;0.964	T	0.66736	-0.5848	10	0.51188	T	0.08	.	10.0223	0.42051	0.0:0.1282:0.6268:0.2451	.	1134;1133;852;852;852;1169	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	D	1134;852;1169;1133;852;852;852;852	ENSP00000392625:G1134D;ENSP00000365637:G1169D;ENSP00000365635:G1133D;ENSP00000302343:G852D;ENSP00000379722:G852D;ENSP00000365634:G852D	ENSP00000302343:G852D	G	+	2	0	KIAA1217	24865800	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.623000	0.61247	2.646000	0.89796	0.655000	0.94253	GGC		TCGA-OE-A75W-01A-12D-A32N-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	0	0	0	6	318	0	56	0	1.847927e-01	0	36	0	56	2		0	0	0	0	0	2	1	0.964333	5	316	0	56	2		0	0	0	0	56	2	-6.807801	1	1	0	0		1	1	2	3	2.192967	0	0.570000	1.770000	0.576041	0.060000	2.000000e-02	1.000000	0.060000	0.111334	0.060000	0	4.000000e-02	1.100000e-01
ERCC6	2074	broad.mit.edu	37	10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6			64					ACATTCCCCATTTCCACTAAT	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000355832.5	0	1	hg19	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486713	0.26686	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82344	-1.6;-1.33	5.95	2.33	0.28932	.	.	.	.	.	T	0.71290	0.3322	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.51474	-0.8701	9	0.11794	T	0.64	-1.9129	8.1179	0.30955	0.0:0.2339:0.0:0.7661	.	1126;503	Q03468;Q59FF6	ERCC6_HUMAN;.	S	1126;503;496	ENSP00000348089:N1126S;ENSP00000445134:N496S	ENSP00000348089:N1126S	N	-	2	0	ERCC6	50348635	0.007000	0.16637	0.006000	0.13384	0.404000	0.30871	1.437000	0.34991	0.152000	0.19188	0.533000	0.62120	AAT		TCGA-OE-A75W-01A-12D-A32N-08	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	0	0	0	13	604	0	101	0	3.171501e-03	0	4	0	101	2		0	0	0	0	0	2	1	0.999501	12	598	0	100	2		0	0	0	0	101	2	-2.893971	1	1	0	0		1	1	2	3	2.192118	0	0.570000	1.770000	0.576041	0.070000	3.000000e-02	1.000000	0.080000	0.115310	0.070000	0	5.000000e-02	1.100000e-01
PCDH15	65217	broad.mit.edu	37	10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			GCTTCACCAACCACCTCACCA	0.373000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000373965.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760384|2.760384	0.49468|0.49468	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.63096|0.58358	0.03;0.14;-0.02|0.38;0.34	6.16|6.16	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B|B	0.34103|0.02656	0.437;0.437;0.437;0.437|0.0	B;B;B;B|B	0.26770|0.04013	0.073;0.073;0.073;0.073|0.001	T|T	0.06698|0.06698	-1.0812|-1.0812	9|9	0.62326|0.45353	D|T	0.03|0.12	.|.	10.6203|10.6203	0.45476|0.45476	0.0:0.7929:0.134:0.0731|0.0:0.7929:0.134:0.0731	.|.	1488;1490;1481;1487|1506	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	F|C	1490;1487;1483;1490|1506;1117	ENSP00000363076:V1490F;ENSP00000410304:V1487F;ENSP00000378832:V1490F|ENSP00000378826:W1506C;ENSP00000386693:W1117C	ENSP00000363076:V1490F|ENSP00000378826:W1506C	V|W	-|-	1|3	0|0	PCDH15|PCDH15	55240357|55240357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.440000|1.440000	0.35024|0.35024	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GTT|TGG		TCGA-OE-A75W-01A-12D-A32N-08	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	0	0	1	126	473	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1.000000	123	464	0	103	2		0	0	0	0	106	2	-20.000000	1	1	0	0		1	1	2	3	2.192118	0	0.570000	1.770000	0.576041	0.740000	6.300000e-01	1.000000	0.750000	0.760549	0.740000	0	6.800000e-01	8.200000e-01
TMEM26	219623	broad.mit.edu	37	10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26			18	Prostate(12;0.0112)				GTTCTTCGCGGCAAAGAACAC	0.502000																								0							SO:0001583	missense			ENST00000399298.3	0	1	hg19	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834333	0.91036	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.109707	0.64402	D	0.000011	T	0.66177	0.2763	L	0.33189	0.99	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.66732	-0.5849	9	0.66056	D	0.02	-2.1204	20.3967	0.98985	0.0:0.0:1.0:0.0	.	290	Q6ZUK4	TMM26_HUMAN	V	290	.	ENSP00000382237:A290V	A	-	2	0	TMEM26	62840324	1.000000	0.71417	0.967000	0.41034	0.382000	0.30200	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GCC		TCGA-OE-A75W-01A-12D-A32N-08	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	0	0	0	5	247	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.938156	5	247	0	41	2		0	0	0	0	41	2	-2.806305	1	1	0	0		1	1	2	3	2.192118	0	0.570000	1.770000	0.576041	0.070000	2.000000e-02	1.000000	0.070000	0.118609	0.070000	0	4.000000e-02	1.200000e-01
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8			21		Colorectal(252;0.0397)		Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000371270.3	1	1	hg19	CCDS7438.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	0	0	0	14	407	0	84	0	5.775729e-02	0	11	0	84	2		0	0	0	0	0	2	1	0.999747	14	403	0	84	2		0	0	0	0	84	2	-3.858464	1	1	0	0		1	1	2	3	2.213635	0	0.570000	1.770000	0.577229	0.120000	6.000000e-02	1.000000	0.120000	0.167360	0.120000	0	8.000000e-02	1.700000e-01
KIAA1377	57562	broad.mit.edu	37	11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377			53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)			AGGTGCAGAAATTCCAAAGAC	0.318000																								0							SO:0001583	missense			ENST00000263468.8	1	1	hg19	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953067	0.34471	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08807	3.05;3.05	5.42	4.26	0.50523	.	0.353806	0.27206	N	0.020421	T	0.19446	0.0467	M	0.68317	2.08	0.33432	D	0.581278	D	0.53151	0.958	P	0.54312	0.748	T	0.22556	-1.0213	10	0.48119	T	0.1	-7.3063	12.5825	0.56397	0.8611:0.1389:0.0:0.0	.	623	Q9P2H0	K1377_HUMAN	F	623;424	ENSP00000263468:I623F;ENSP00000443184:I424F	ENSP00000263468:I623F	I	+	1	0	KIAA1377	101338843	0.995000	0.38212	0.784000	0.31847	0.115000	0.19883	3.384000	0.52478	0.952000	0.37798	0.459000	0.35465	ATT		TCGA-OE-A75W-01A-12D-A32N-08	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	1	0	1	55	149	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	54	147	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.940000	7.400000e-01	1.000000	1.000000	0.928787	0.940000	1	8.300000e-01	1
ELMOD1	55531	broad.mit.edu	37	11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000265840.7	+	6	633	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1			19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)			GAAAAACTGCGTAGAGAGGCC	0.433000																								0							SO:0001583	missense			ENST00000265840.7	0	1	hg19	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318541	0.95682	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.33865	1.39;1.39;1.39	5.57	5.57	0.84162	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.66337	-0.5949	10	0.56958	D	0.05	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	123;123	Q8N336;G5E9S5	ELMD1_HUMAN;.	H	117;123;123	ENSP00000433232:R117H;ENSP00000265840:R123H;ENSP00000412257:R123H	ENSP00000265840:R123H	R	+	2	0	ELMOD1	107011649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.989000	0.93506	2.785000	0.95823	0.591000	0.81541	CGT		TCGA-OE-A75W-01A-12D-A32N-08	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	0	0	0	7	258	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.980738	7	257	0	52	2		0	0	0	0	53	2	-3.405233	1	1	120828	1	37	1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.090000	3.000000e-02	0.190000	0.100000	0.105137	0.090000	0	6.000000e-02	1.400000e-01
ACRV1	56	broad.mit.edu	37	11	125548083	125548083	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000527795.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1			6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TCTCATATAAAGCCTCAGCAT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000533904.1	1	1	hg19	CCDS8460.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	1	0	1	79	224	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	79	224	0	63	2		0	0	0	0	65	2	-20.000000	1	1	0	0		1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.910000	7.400000e-01	1.000000	1.000000	0.911286	0.910000	1	8.200000e-01	1
PTDSS2	81490	broad.mit.edu	37	11	473950	473950	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2			9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483000																								0							SO:0001583	missense			ENST00000308020.5	1	1	hg19	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281337	0.80692	.	.	ENSG00000174915	ENST00000308020	.	.	.	5.12	5.12	0.69794	.	0.059306	0.64402	D	0.000003	T	0.33147	0.0853	N	0.11341	0.13	0.58432	D	0.999999	P	0.38617	0.64	B	0.32465	0.146	T	0.20107	-1.0285	9	0.30078	T	0.28	-23.8077	17.6882	0.88262	0.0:0.0:1.0:0.0	.	114	Q9BVG9	PTSS2_HUMAN	N	114	.	ENSP00000308258:D114N	D	+	1	0	PTDSS2	463950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.943000	0.92975	2.545000	0.85829	0.462000	0.41574	GAC		TCGA-OE-A75W-01A-12D-A32N-08	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	1	0	1	168	485	0	114	1	9.830410e-01	3	18	0	114	2		0	0	0	0	0	2	1	1.000000	165	471	0	111	2		0	0	0	0	114	2	-20.000000	1	1	0	0		1	0	0	0	2.095420	0	0.570000	1.770000	0.559967	0.870000	7.600000e-01	0.990000	0.880000	0.882983	0.870000	1	8.100000e-01	9.400000e-01
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2			17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			CCTATTTGGGCAACTCTGACA	0.423000																								0							SO:0001583	missense			ENST00000380371.1	1	1	hg19	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.509	1.105347	0.20632	.	.	ENSG00000205496	ENST00000380371	T	0.37752	1.18	3.13	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23054	0.0557	L	0.43598	1.365	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.28996	-1.0026	9	0.28530	T	0.3	.	3.2793	0.06909	0.4379:0.2384:0.0:0.3237	.	144	Q8NGJ7	O51A2_HUMAN	T	144	ENSP00000369729:A144T	ENSP00000369729:A144T	A	-	1	0	OR51A2	4933090	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.391000	0.00068	-1.068000	0.03156	0.395000	0.25975	GCC		TCGA-OE-A75W-01A-12D-A32N-08	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	1	0	0	73	1053	0	224		0	0	0	0	224	2		0	0	0	0	0	2	1	1.000000	58	903	0	259	2		0	0	0	0	224	2	-12.040710	1	1	0	0		1	0	0	0	2.141750	0	0.570000	1.770000	0.570000	0.220000	1.700000e-01	0.280000	0.220000	0.230016	0.220000	0	1.900000e-01	2.600000e-01
SHANK2	22941	broad.mit.edu	37	11	70333392	70333392	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000423696.2	-	15	1905	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	SHANK2_ENST00000338508.4_Silent_p.V1003V|SHANK2_ENST00000449833.2_Silent_p.V407V|SHANK2_ENST00000409161.1_Silent_p.V406V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		GCTTGGCGGGGACGTAGACGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000423696.2	0	1	hg19																																																																																					TCGA-OE-A75W-01A-12D-A32N-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	0	0	11	1090	0	251		0	0	0	0	251	2		0	0	0	0	0	2	1	0.998174	11	1073	0	248	2		0	0	0	0	251	2	-3.075588	1	1	0	0		1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.030000	0	0.070000	0.040000	0.038887	0.030000	0	2.000000e-02	5.000000e-02
NADSYN1	55191	broad.mit.edu	37	11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	p.R430M(1)		25				L-Glutamine(DB00130)	GACGTGCACCCGGGCCAGAGA	0.607000													Ovarian(79;763 1781 6490 50276)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000319023.2	1	1	hg19	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400419	0.42613	0.0	3.49E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.06	-1.88	0.07713	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	H	0.94808	3.585	0.49798	D	0.999826	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.73780	-0.3875	10	0.87932	D	0	-26.347	12.5193	0.56050	0.3856:0.6144:0.0:0.0	.	170;430	B3KUU4;Q6IA69	.;NADE_HUMAN	W	430;170;59;59	ENSP00000326424:R430W;ENSP00000443718:R170W;ENSP00000437172:R59W;ENSP00000431820:R59W	ENSP00000326424:R430W	R	+	1	2	NADSYN1	70871680	0.927000	0.31430	0.007000	0.13788	0.216000	0.24613	0.660000	0.25009	-0.610000	0.05716	-0.397000	0.06425	CGG		TCGA-OE-A75W-01A-12D-A32N-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	0	39	359	0	80	1	9.999999e-01	41	187	0	80	2		0	0	0	0	0	2	1	1.000000	39	356	0	79	2		0	0	0	0	80	2	-2.598634	1	1	121412	22	46	1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.340000	2.400000e-01	0.460000	0.340000	0.351215	0.340000	0	2.900000e-01	4.000000e-01
ME3	10873	broad.mit.edu	37	11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000393324.3	-	11	1557	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	ME3_ENST00000543262.1_Missense_Mutation_p.R435H|ME3_ENST00000359636.2_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial			27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			GATGATAGGGCGCTCGTGGAA	0.622000																								0							SO:0001583	missense			ENST00000393324.3	1	1	hg19	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025030	0.35701	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.38	3.42	0.39159	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098256	0.64402	N	0.000002	T	0.48926	0.1527	M	0.81802	2.56	0.80722	D	1	B	0.19331	0.035	B	0.21546	0.035	T	0.43343	-0.9397	9	.	.	.	.	11.3629	0.49655	0.0:0.845:0.0:0.155	.	435	Q16798	MAON_HUMAN	H	435	ENSP00000352657:R435H;ENSP00000440246:R435H;ENSP00000376998:R435H;ENSP00000431182:R435H	.	R	-	2	0	ME3	85835831	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	3.210000	0.51129	0.683000	0.31428	-0.355000	0.07637	CGC		TCGA-OE-A75W-01A-12D-A32N-08	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2	1	0	1	103	195	0	59	1	1	19	37	0	59	2		0	0	0	0	0	2	1	1.000000	103	195	0	58	2		0	0	0	0	59	2	-20.000000	1	1	0	0		1	1	2	3	2.161715	0	0.570000	1.770000	0.571222	0.990000	9.900000e-01	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
TBX5	6910	broad.mit.edu	37	12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000526441.1_Missense_Mutation_p.E69K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	p.E69K(1)		56	Medulloblastoma(191;0.163)|all_neural(191;0.178)				GTGCCCACTTCGTGGAATTTT	0.463000													NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - Missense(1)	GRCh37	CM971436	TBX5	M	rs104894377	SO:0001583	missense			ENST00000310346.4	1	1	hg19	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642376	0.47153	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.105066	0.64402	D	0.000005	T	0.79678	0.4487	N	0.20401	0.57	0.80722	D	1	B;B	0.18310	0.027;0.013	B;B	0.17098	0.017;0.004	T	0.73681	-0.3906	10	0.22706	T	0.39	.	11.0049	0.47629	0.0:0.9151:0.0:0.0849	.	69;69	Q99593-2;Q99593	.;TBX5_HUMAN	K	19;69;69;69	ENSP00000337723:E19K;ENSP00000309913:E69K;ENSP00000384152:E69K;ENSP00000433292:E69K	ENSP00000309913:E69K	E	-	1	0	TBX5	113324051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.359000	0.80004	0.561000	0.74099	GAA		TCGA-OE-A75W-01A-12D-A32N-08	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	1	0	1	77	241	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	76	235	0	74	2		0	0	0	0	74	2	-4.668860	1	1	0	0		1	0	0	0	2.012138	0	0.570000	1.770000	0.541235	0.790000	6.400000e-01	0.950000	0.800000	0.799297	0.790000	0	7.100000e-01	8.800000e-01
MORN3	283385	broad.mit.edu	37	12	122091031	122091031	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122091031C>T	ENST00000355329.3	-	4	768	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	p.D200Y(1)		9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CGGCCAAAGTCGATCATCGTC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000355329.3	0	1	hg19	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929149	0.92389	.	.	ENSG00000139714	ENST00000355329	T	0.74315	-0.83	4.86	4.86	0.63082	.	0.053142	0.64402	D	0.000001	D	0.83059	0.5172	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83861	0.0268	10	0.52906	T	0.07	.	17.952	0.89056	0.0:1.0:0.0:0.0	.	200	Q6PF18	MORN3_HUMAN	N	200	ENSP00000347486:D200N	ENSP00000347486:D200N	D	-	1	0	MORN3	120575414	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.215000	0.65241	2.422000	0.82143	0.561000	0.74099	GAC		TCGA-OE-A75W-01A-12D-A32N-08	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	0	0	0	5	179	0	36	0	2.826317e-02	0	8	0	36	2		0	0	0	0	0	2	1	0.937510	5	178	0	35	2		0	0	0	0	36	2	-7.134443	1	1	121410	1	22	1	0	0	0	2.012138	0	0.570000	1.770000	0.541235	0.090000	3.000000e-02	0.190000	0.090000	0.105605	0.090000	0	5.000000e-02	1.500000e-01
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TTCCGTGGCGGTATACAGAGC	0.458000																								0							SO:0001583	missense			ENST00000540338.1	0	1	hg19	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		TCGA-OE-A75W-01A-12D-A32N-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	0	8	857	1	185	0	1.165960e-03	0	5	1	185	2		0	0	0	0	0	2	0	0.049530	8	848	1	185	17		0	0	0	1	185	2	-2.212927	0	1	0	0		1	0	0	0	2.012138	0	0.570000	1.770000	0.541235	0.020000	0	0.060000	0.030000	0.034060	0.020000	0	1.000000e-02	5.000000e-02
LRP6	4040	broad.mit.edu	37	12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000261349.4	-	15	3390	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			GGCTAAAGCAATTGGTTTACT	0.453000																								0							SO:0001583	missense			ENST00000261349.4	1	1	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	7.457	0.643887	0.14451	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95588	-3.75;-3.75	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.519638	0.17309	U	0.178962	D	0.84338	0.5450	N	0.00569	-1.365	0.50171	D	0.999857	B;B	0.15141	0.007;0.012	B;B	0.23419	0.046;0.036	T	0.81077	-0.1096	10	0.11182	T	0.66	.	15.9477	0.79806	1.0:0.0:0.0:0.0	.	1105;1105	F5H7J9;O75581	.;LRP6_HUMAN	T	1105	ENSP00000261349:I1105T;ENSP00000442472:I1105T	ENSP00000261349:I1105T	I	-	2	0	LRP6	12191650	0.964000	0.33143	0.960000	0.40013	0.960000	0.62799	8.962000	0.93254	2.179000	0.69175	0.460000	0.39030	ATT		TCGA-OE-A75W-01A-12D-A32N-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1	180	491	0	124		0	0	0	0	124	2	0	0	0	1	0	0	2	1	1.000000	180	489	0	121	2		0	0	0	0	124	2	-20.000000	1	1	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.890000	7.800000e-01	1.000000	0.900000	0.903579	0.890000	1	8.400000e-01	9.600000e-01
PITPNM2	57605	broad.mit.edu	37	12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000542749.1	-	24	3823	c.3760C>T	c.(3760-3762)Cag>Tag	p.Q1254*	PITPNM2_ENST00000280562.5_Nonsense_Mutation_p.Q1248*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TACTTCAGCTGCGCCAGGTGG	0.726000																								0							SO:0001587	stop_gained			ENST00000542749.1	0	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	41	8.645874	0.98899	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	.	.	.	4.8	4.8	0.61643	.	0.071076	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-33.4146	18.4084	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	X	1248;1254;975;1254	.	ENSP00000280562:Q1248X	Q	-	1	0	PITPNM2	122036817	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.611000	0.82962	2.664000	0.90586	0.561000	0.74099	CAG		TCGA-OE-A75W-01A-12D-A32N-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	0	4	74	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.885999	4	72	0	18	2		0	0	0	0	18	2	-8.464021	1	1	0	0		1	0	0	0	2.012138	0	0.570000	1.770000	0.541235	0.180000	6.000000e-02	0.390000	0.170000	0.203342	0.180000	0	1.100000e-01	2.900000e-01
GUCY2C	2984	broad.mit.edu	37	12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	rs118078831		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)			51				Linaclotide(DB08890)	TGCTTGCAAACGCTGTTGATT	0.413000																								0							SO:0001583	missense			ENST00000261170.3	0	1	hg19	CCDS8664.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.52	2.560274	0.45590	2.27E-4	1.16E-4	ENSG00000070019	ENST00000261170	D	0.81659	-1.52	5.85	4.78	0.61160	.	0.209202	0.48767	D	0.000168	T	0.73265	0.3565	L	0.39147	1.195	0.58432	D	0.999994	B	0.25272	0.122	B	0.20955	0.032	T	0.70346	-0.4897	10	0.42905	T	0.14	.	14.7732	0.69696	0.0:0.8799:0.0:0.1201	.	1021	P25092	GUC2C_HUMAN	H	1021	ENSP00000261170:R1021H	ENSP00000261170:R1021H	R	-	2	0	GUCY2C	14657478	0.984000	0.35163	0.979000	0.43373	0.997000	0.91878	2.584000	0.46102	2.773000	0.95371	0.655000	0.94253	CGT		TCGA-OE-A75W-01A-12D-A32N-08	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	0	0	0	7	707	0	143	0	1.394695e-04	0	2	0	143	2		0	0	0	0	0	2	1	0.980171	7	702	0	142	2		0	0	0	0	143	2	-2.806187	1	1	121406	22	50	1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.030000	0	0.070000	0.040000	0.037489	0.030000	0	1.000000e-02	5.000000e-02
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-OE-A75W-01A-12D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	30	63	0	18	1	9.601079e-01	6	8	0	18	2	1	1	67	264	0	304	2	1	1.000000	30	63	0	18	2	1	1	2553	5469	0	18	2	-20.000000	1	1	121404	2	44	1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.990000	7.800000e-01	1.000000	1.000000	0.972074	0.990000	1	9.200000e-01	1
PPFIBP1	8496	broad.mit.edu	37	12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)		PPFIBP1/ALK(3)	32	Lung SC(9;0.0873)				TCCATCTCCAGATTCCAAAAA	0.443000																								0							SO:0001583	missense			ENST00000318304.8	0	1	hg19	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808956	0.90707	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	5.8	0.92144	.	0.000000	0.35096	U	0.003459	D	0.87030	0.6076	L	0.59436	1.845	0.80722	D	1	D;D;D;P;D	0.89917	0.999;1.0;0.999;0.886;0.996	D;D;D;P;D	0.91635	0.981;0.999;0.928;0.847;0.967	D	0.87005	0.2119	10	0.66056	D	0.02	-23.4066	19.6581	0.95851	0.0:0.0:1.0:0.0	.	428;412;581;575;550	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	H	412;428;581;550;575	ENSP00000444304:D412H;ENSP00000445425:D428H;ENSP00000314724:D581H;ENSP00000443442:D550H;ENSP00000228425:D575H	ENSP00000228425:D575H	D	+	1	0	PPFIBP1	27723796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.039000	0.76544	2.735000	0.93741	0.655000	0.94253	GAT		TCGA-OE-A75W-01A-12D-A32N-08	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	0	0	0	9	660	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	0.993808	9	649	0	111	2		0	0	0	0	112	2	-2.667391	1	1	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.040000	1.000000e-02	0.080000	0.040000	0.050245	0.040000	0	2.000000e-02	7.000000e-02
NELL2	4753	broad.mit.edu	37	12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			ATGGTGCAAGTCCTTTCACAA	0.458000																								0							SO:0001583	missense			ENST00000429094.2	1	1	hg19	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935303	0.34189	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	von Willebrand factor, type C (1);	0.050756	0.85682	D	0.000000	T	0.38878	0.1057	N	0.13003	0.285	0.52099	D	0.999945	B;B;B;B;B;B	0.30824	0.01;0.296;0.045;0.036;0.027;0.185	B;B;B;B;B;B	0.24006	0.003;0.05;0.038;0.012;0.017;0.034	T	0.34428	-0.9829	10	0.10111	T	0.7	-16.8894	10.9681	0.47424	0.1394:0.0:0.0:0.8606	.	296;323;272;273;273;272	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	272;273;272;273;272;296;323;272;46;273	ENSP00000378866:T272S;ENSP00000390680:T273S;ENSP00000449332:T272S;ENSP00000394612:T273S;ENSP00000447927:T272S;ENSP00000327988:T296S;ENSP00000416341:T323S;ENSP00000450102:T46S;ENSP00000447085:T273S	ENSP00000327988:T296S	T	-	1	0	NELL2	43456146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.137000	0.66172	0.528000	0.53228	ACT		TCGA-OE-A75W-01A-12D-A32N-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1	65	211	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1.000000	64	207	0	44	2		0	0	0	0	44	2	-20.000000	1	1	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.780000	6.200000e-01	0.960000	0.790000	0.797052	0.780000	0	7.000000e-01	8.800000e-01
ANO6	196527	broad.mit.edu	37	12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000425752.2_Missense_Mutation_p.P762S|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.P783S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6			46					CTTCTCCGTCCCTCCCTACGG	0.473000																								0							SO:0001583	missense			ENST00000320560.8	1	1	hg19	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759155	0.31137	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69435	-0.4;-0.27;-0.4;-0.26;-0.26	5.05	5.05	0.67936	.	0.319688	0.35151	N	0.003416	T	0.55784	0.1942	L	0.34521	1.04	0.46798	D	0.999205	B;B;B;B	0.27068	0.008;0.055;0.167;0.006	B;B;B;B	0.23018	0.019;0.02;0.031;0.043	T	0.51718	-0.8670	10	0.13853	T	0.58	.	19.2834	0.94061	0.0:1.0:0.0:0.0	.	744;783;762;762	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	762;783;762;762;744	ENSP00000391417:P762S;ENSP00000409126:P783S;ENSP00000413840:P762S;ENSP00000320087:P762S;ENSP00000413137:P744S	ENSP00000320087:P762S	P	+	1	0	ANO6	44101187	0.996000	0.38824	0.803000	0.32268	0.219000	0.24729	3.992000	0.56980	2.717000	0.92951	0.650000	0.86243	CCT		TCGA-OE-A75W-01A-12D-A32N-08	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	1	0	1	133	307	0	77	0	9.197120e-02	0	2	0	77	2		0	0	0	0	0	2	1	1.000000	132	303	0	77	2		0	0	0	0	77	2	-9.600790	1	0	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.990000	8.700000e-01	1.000000	1.000000	0.979368	0.990000	1	9.400000e-01	1
RAPGEF3	10411	broad.mit.edu	37	12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000449771.2	-	21	2244	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3			25	Lung SC(27;0.192)				CAGCTCGGTGGCCACCCAGTA	0.652000																								0							SO:0001583	missense			ENST00000449771.2	0	1	hg19	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452324	0.43531	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.82	2.9	0.33743	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.148106	0.44688	D	0.000440	T	0.16342	0.0393	N	0.16368	0.405	0.35502	D	0.799909	B	0.33841	0.428	B	0.38106	0.265	T	0.14144	-1.0483	10	0.02654	T	1	.	9.7478	0.40457	0.1057:0.0:0.8943:0.0	.	719	O95398	RPGF3_HUMAN	V	677;719;366;677;677;677;719;682;628	ENSP00000384521:A677V;ENSP00000395708:A719V;ENSP00000448619:A677V;ENSP00000171000:A677V;ENSP00000373864:A719V;ENSP00000448480:A628V	ENSP00000171000:A677V	A	-	2	0	RAPGEF3	46420767	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.182000	0.32029	1.870000	0.54199	0.561000	0.74099	GCC		TCGA-OE-A75W-01A-12D-A32N-08	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	0	0	0	5	354	0	81	0	9.433103e-02	0	30	0	81	2		0	0	0	0	0	2	1	0.934678	4	348	0	80	2		0	0	0	0	81	2	-5.074177	1	0	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.040000	1.000000e-02	0.100000	0.050000	0.055832	0.040000	0	2.000000e-02	8.000000e-02
GALNT6	11226	broad.mit.edu	37	12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6			27					GTTGTGTACTCAAAGTACTGG	0.547000																								0							SO:0001583	missense			ENST00000543196.2	0	1	hg19	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729653	0.69074	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26810	1.71;1.71	3.92	3.92	0.45320	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54629	-0.8265	10	0.27082	T	0.32	.	15.908	0.79445	0.0:1.0:0.0:0.0	.	537	Q8NCL4	GALT6_HUMAN	Q	537;537;518	ENSP00000444171:E537Q;ENSP00000348668:E537Q	ENSP00000348668:E537Q	E	-	1	0	GALNT6	50036003	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.378000	0.79679	2.485000	0.83878	0.655000	0.94253	GAG		TCGA-OE-A75W-01A-12D-A32N-08	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	0	0	0	7	416	0	67	0	2.617245e-02	0	13	0	67	2		0	0	0	0	0	2	1	0.980470	7	414	0	67	2		0	0	0	0	67	2	-2.650283	1	1	0	0		1	0	0	0	2.051268	0	0.570000	1.770000	0.552130	0.050000	1.000000e-02	0.110000	0.060000	0.063322	0.050000	0	3.000000e-02	9.000000e-02
HOXC11	3227	broad.mit.edu	37	12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000546378.1	+	1	243	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11			2					CTACATGCCCGAGTTCTCCAC	0.642000			T	NUP98	AML										Dom	yes		12	12q13.3	3227	homeo box C11		L	0							SO:0001583	missense			ENST00000546378.1	0	1	hg19	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433131	0.83776	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.49432	0.78;0.78	4.47	4.47	0.54385	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.052375	0.85682	D	0.000000	T	0.55955	0.1953	L	0.54323	1.7	0.58432	D	0.999998	P	0.51791	0.948	P	0.51999	0.687	T	0.61569	-0.7036	10	0.72032	D	0.01	.	16.4268	0.83817	0.0:0.0:1.0:0.0	.	43	O43248	HXC11_HUMAN	K	43	ENSP00000446680:E43K;ENSP00000243082:E43K	ENSP00000243082:E43K	E	+	1	0	HOXC11	52653419	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.227000	0.95236	2.471000	0.83476	0.561000	0.74099	GAG		TCGA-OE-A75W-01A-12D-A32N-08	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2	0	0	0	16	828	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	0.999919	16	810	0	153	2		0	0	0	0	156	2	-2.410515	0	1	0	0		1	0	0	0	2.020472	0	0.570000	1.770000	0.544008	0.060000	2.000000e-02	0.100000	0.060000	0.066415	0.060000	0	4.000000e-02	8.000000e-02
NTF3	4908	broad.mit.edu	37	12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000331010.6	+	1	661	c.578C>T	c.(577-579)aCg>aTg	p.T193M	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.T206M	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3			22					TTTTATGAAACGCGATGTAAG	0.507000													GBM(194;1104 2182 8339 9578 18493)											0							SO:0001583	missense			ENST00000331010.6	1	1	hg19	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155349	0.78114	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.87665	0.6234	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89132	0.3510	10	0.87932	D	0	-33.1613	18.2818	0.90101	0.0:1.0:0.0:0.0	.	193;206	P20783;B7Z1T5	NTF3_HUMAN;.	M	206;193	ENSP00000397297:T206M;ENSP00000328738:T193M	ENSP00000328738:T193M	T	+	2	0	NTF3	5474219	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	ACG		TCGA-OE-A75W-01A-12D-A32N-08	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	1	0	0	28	271	0	62	0	4.990021e-02	0	4	0	62	2		0	0	0	0	0	2	1	1.000000	27	268	0	61	2		0	0	0	0	62	2	-1.750592	0	1	0	0		1	0	0	0	2.055069	0	0.570000	1.770000	0.552130	0.310000	2.100000e-01	0.430000	0.320000	0.323689	0.310000	0	2.600000e-01	3.800000e-01
LRIG3	121227	broad.mit.edu	37	12	59267907	59267907	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3		LRIG3/ROS1(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)		AGGACTTGTTTAGACACAGAT	0.408000			T	ROS1	NSCLC										Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0							SO:0001819	synonymous_variant			ENST00000320743.3	1	1	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679659	0.14907	.	.	ENSG00000139263	ENST00000550825	.	.	.	5.63	-9.02	0.00741	.	.	.	.	.	.	.	.	.	.	.	0.26728	N	0.97065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2731	0.43493	0.0:0.3257:0.4744:0.1999	.	.	.	.	X	117	.	.	K	-	1	0	LRIG3	57554174	0.386000	0.25180	0.082000	0.20525	0.229000	0.25112	-0.728000	0.04925	-2.026000	0.00934	-0.417000	0.06048	AAA		TCGA-OE-A75W-01A-12D-A32N-08	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	0	15	313	0	60	0	9.828050e-01	0	142	0	60	2		0	0	0	0	0	2	1	0.999881	15	313	0	59	2		0	0	0	0	60	2	-16.762910	1	1	0	0		1	0	0	0	2.020472	0	0.570000	1.770000	0.544008	0.150000	8.000000e-02	0.240000	0.150000	0.160017	0.150000	0	1.100000e-01	2.000000e-01
MGAT4C	25834	broad.mit.edu	37	12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C			41					AATATGGTGCGCAAATTTCTG	0.403000																								0							SO:0001583	missense			ENST00000604798.1	0	1	hg19	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293358	0.40594	2.27E-4	1.16E-4	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.58	3.67	0.42095	.	0.272302	0.36134	N	0.002770	D	0.88916	0.6567	M	0.66939	2.045	0.32647	N	0.519858	D;D	0.69078	0.997;0.997	P;P	0.62560	0.904;0.904	D	0.89173	0.3538	10	0.26408	T	0.33	-7.7201	12.7018	0.57038	0.0:0.1257:0.7434:0.1309	.	190;161	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	161;190;161;161;161;161;161	ENSP00000331664:A161V;ENSP00000376900:A190V;ENSP00000449022:A161V;ENSP00000446647:A161V;ENSP00000447253:A161V;ENSP00000449172:A161V	ENSP00000331664:A161V	A	-	2	0	MGAT4C	84898153	1.000000	0.71417	0.635000	0.29338	0.003000	0.03518	6.447000	0.73465	1.321000	0.45227	0.655000	0.94253	GCG		TCGA-OE-A75W-01A-12D-A32N-08	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	0	0	0	5	477	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	0.937840	6	476	0	82	2		0	0	0	0	83	2	-2.060875	0	1	121410	4	38	1	1	2	3	2.170025	0	0.570000	1.770000	0.572437	0.030000	0	0.090000	0.040000	0.052728	0.030000	0	1.000000e-02	6.000000e-02
MPHOSPH8	54737	broad.mit.edu	37	13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8			16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)			GCAGAGGAATCAAGACAGAAG	0.502000																								0							SO:0001583	missense			ENST00000361479.5	1	1	hg19	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756354	0.15846	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35048	1.34;1.33	5.61	5.61	0.85477	.	1.796160	0.02353	N	0.076114	T	0.48077	0.1480	L	0.58101	1.795	0.41991	D	0.990848	P;B;P;B	0.41131	0.739;0.435;0.571;0.435	B;B;B;B	0.40782	0.34;0.15;0.225;0.152	T	0.49341	-0.8950	10	0.25106	T	0.35	.	19.6274	0.95684	0.0:1.0:0.0:0.0	.	366;366;366;366	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	E	366	ENSP00000414663:Q366E;ENSP00000355388:Q366E	ENSP00000355388:Q366E	Q	+	1	0	MPHOSPH8	19119309	1.000000	0.71417	0.852000	0.33557	0.180000	0.23129	4.294000	0.59043	2.634000	0.89283	0.585000	0.79938	CAA		TCGA-OE-A75W-01A-12D-A32N-08	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	1	0	1	39	115	0	32	1	9.991951e-01	16	20	0	32	2		0	0	0	0	0	2	1	1.000000	36	115	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	0	0	2.141106	0	0.570000	1.770000	0.570000	0.880000	6.600000e-01	1.000000	1.000000	0.881290	0.880000	1	7.600000e-01	1
SPG20	23111	broad.mit.edu	37	13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000355182.4_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)			27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		TTCTGCTGAAACATTGTTAAC	0.323000																								0							SO:0001583	missense			ENST00000451493.1	1	1	hg19	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862134	0.91511	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89617	-2.54;-2.54;-2.54	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92473	0.5987	10	0.37606	T	0.19	-22.1858	16.2644	0.82568	1.0:0.0:0.0:0.0	.	567;567	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	A	567	ENSP00000406061:V567A;ENSP00000347314:V567A;ENSP00000414147:V567A	ENSP00000347314:V567A	V	-	2	0	SPG20	35784315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.703000	0.74633	2.244000	0.73946	0.528000	0.53228	GTT		TCGA-OE-A75W-01A-12D-A32N-08	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1	74	258	0	49	0	9.746497e-01	0	23	0	49	2		0	0	0	0	0	2	1	1.000000	74	254	0	48	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	0	0	0	2.112994	0	0.570000	1.770000	0.565041	0.760000	6.200000e-01	0.930000	0.770000	0.777012	0.760000	0	6.900000e-01	8.500000e-01
SMAD9	4093	broad.mit.edu	37	13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000399275.2	-	1	420	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.R94H|SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H			O15198	SMAD9_HUMAN	SMAD family member 9			18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)			GCGCCACACGCGACAGTAAAT	0.627000																								0							SO:0001583	missense			ENST00000399275.2	0	1	hg19	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140955	0.77775	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.70716	0.801;0.97	D	0.93576	0.6908	10	0.87932	D	0	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	94;94	O15198-2;O15198	.;SMAD9_HUMAN	H	94	ENSP00000382216:R94H;ENSP00000239885:R94H;ENSP00000369154:R94H	ENSP00000239885:R94H	R	-	2	0	SMAD9	36351546	1.000000	0.71417	0.962000	0.40283	0.019000	0.09904	6.034000	0.70933	2.599000	0.87857	0.563000	0.77884	CGC		TCGA-OE-A75W-01A-12D-A32N-08	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	0	0	0	7	221	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	0.980783	7	220	0	57	2		0	0	0	0	60	2	-8.859226	1	1	121410	1	31	1	0	0	0	2.112994	0	0.570000	1.770000	0.565041	0.110000	4.000000e-02	0.210000	0.100000	0.120249	0.110000	0	7.000000e-02	1.600000e-01
NOVA1	4857	broad.mit.edu	37	14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1			40					ACAGCTTTTCGGTTTTGTTCA	0.473000																								0							SO:0001587	stop_gained			ENST00000539517.2	0	1	hg19	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801762	0.97849	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.4817	19.8956	0.96956	0.0:0.0:1.0:0.0	.	.	.	.	X	207;231;109;190;85	.	ENSP00000267422:R109X	R	-	1	2	NOVA1	25987838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.708000	0.92522	0.563000	0.77884	CGA		TCGA-OE-A75W-01A-12D-A32N-08	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	0	0	0	6	546	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.964745	6	544	0	92	2		0	0	0	0	92	2	-2.172289	0	1	0	0		1	0	0	0	2.122520	0	0.570000	1.770000	0.567535	0.030000	0	0.080000	0.040000	0.043886	0.030000	0	2.000000e-02	6.000000e-02
EXOC5	10640	broad.mit.edu	37	14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5			22					ACAAGAAAGTCTGTTTATCAG	0.343000																								0							SO:0001583	missense			ENST00000413566.2	0	1	hg19	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240468	0.39598	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	.	0.048260	0.85682	D	0.000000	T	0.23766	0.0575	N	0.02539	-0.55	0.51767	D	0.999934	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.08617	-1.0713	10	0.33940	T	0.23	-8.6151	20.0333	0.97547	0.0:1.0:0.0:0.0	.	266;331	F8W9B8;O00471	.;EXOC5_HUMAN	H	331;266	ENSP00000389934:Q331H;ENSP00000342100:Q266H	ENSP00000342100:Q266H	Q	-	3	2	EXOC5	56768132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.013000	0.57138	2.810000	0.96702	0.585000	0.79938	CAG		TCGA-OE-A75W-01A-12D-A32N-08	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	0	0	0	5	271	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.935682	5	267	0	36	2		0	0	0	0	36	2	-4.106622	1	1	0	0		1	0	0	0	2.142545	0	0.570000	1.770000	0.570000	0.060000	2.000000e-02	0.140000	0.060000	0.075501	0.060000	0	3.000000e-02	1.000000e-01
SIPA1L1	26037	broad.mit.edu	37	14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000555818.1	+	2	1277	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					CTTGGGAAGTCATCAGATCTT	0.418000																								0							SO:0001583	missense			ENST00000555818.1	0	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558807	0.27827	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.428174	0.28161	N	0.016373	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	B;P;B	0.37500	0.074;0.597;0.001	B;B;B	0.43990	0.01;0.438;0.001	T	0.15752	-1.0426	10	0.36615	T	0.2	-11.6329	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310;310;310	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	310	ENSP00000370630:S310L;ENSP00000450832:S310L;ENSP00000351352:S310L	ENSP00000351352:S310L	S	+	2	0	SIPA1L1	71125271	0.983000	0.35010	0.378000	0.26068	0.087000	0.18053	2.677000	0.46892	2.885000	0.99019	0.655000	0.94253	TCA		TCGA-OE-A75W-01A-12D-A32N-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	0	0	6	321	0	45	0	1.519339e-03	0	3	0	45	2		0	0	0	0	0	2	1	0.963994	6	317	0	45	2		0	0	0	0	45	2	-6.530284	1	0	0	0		1	0	0	0	2.142545	0	0.570000	1.770000	0.570000	0.060000	2.000000e-02	0.130000	0.060000	0.074481	0.060000	0	4.000000e-02	1.000000e-01
SIPA1L1	26037	broad.mit.edu	37	14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000555818.1	+	2	1280	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					GGGAAGTCATCAGATCTTGAA	0.413000																								0							SO:0001587	stop_gained			ENST00000555818.1	0	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	42	9.477020	0.99181	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	6.07	6.07	0.98685	.	0.378699	0.30869	N	0.008709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000351352:S311X	S	+	2	0	SIPA1L1	71125274	1.000000	0.71417	0.271000	0.24616	0.037000	0.13140	7.575000	0.82447	2.885000	0.99019	0.655000	0.94253	TCA		TCGA-OE-A75W-01A-12D-A32N-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	0	0	0	6	314	0	44	0	1.585379e-03	0	3	0	44	2		0	0	0	0	0	2	1	0.964327	6	311	0	44	2		0	0	0	0	44	2	-4.039786	1	0	0	0		1	0	0	0	2.142545	0	0.570000	1.770000	0.570000	0.060000	2.000000e-02	0.140000	0.060000	0.076095	0.060000	0	4.000000e-02	1.000000e-01
NIPA2	81614	broad.mit.edu	37	15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2			15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)			CTGTCCATGGCGAGGACCCAC	0.468000																								0							SO:0001583	missense			ENST00000337451.3	1	1	hg19	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097751	0.56075	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91740	-2.9;-2.9;-2.9	5.65	3.79	0.43588	.	0.047323	0.85682	D	0.000000	D	0.91646	0.7360	M	0.81614	2.55	0.80722	D	1	P;P	0.38020	0.615;0.562	B;B	0.37888	0.17;0.26	D	0.90560	0.4515	10	0.59425	D	0.04	-18.3833	12.5884	0.56430	0.0:0.8679:0.0:0.1321	.	153;172	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	H	172;172;153;172;153	ENSP00000337618:R172H;ENSP00000381096:R172H;ENSP00000352762:R153H	ENSP00000337618:R172H	R	-	2	0	NIPA2	20558230	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.882000	0.63121	0.871000	0.35750	-0.768000	0.03414	CGC		TCGA-OE-A75W-01A-12D-A32N-08	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	1	0	1	113	113	0	41	1	1	54	12	0	41	2		0	0	0	0	0	2	1	1.000000	109	112	0	41	2		0	0	0	0	41	2	-20.000000	1	1	121412	8	39	1	0	2	2	2.275188	1	0.570000	1.770000	0.570000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000346128.6	-	25	4973	c.4499C>T	c.(4498-4500)cCc>cTc	p.P1500L	TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			ACTTTTCTGGGGATAGAAAGC	0.438000													Melanoma(77;681 1843 6309 6570)											0							SO:0001583	missense			ENST00000346128.6	0	1	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371619	0.61624	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.59083	0.29;0.29	5.61	5.61	0.85477	.	0.111909	0.64402	D	0.000008	T	0.63593	0.2524	L	0.50333	1.59	0.80722	D	1	B;B;B;P	0.45827	0.005;0.001;0.009;0.867	B;B;B;P	0.48030	0.009;0.002;0.016;0.564	T	0.65747	-0.6093	10	0.87932	D	0	.	19.8945	0.96949	0.0:0.0:1.0:0.0	.	1493;1420;1500;1424	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1500;1424;1500;1420;1420	ENSP00000281537:P1500L;ENSP00000382890:P1424L	ENSP00000281537:P1500L	P	-	2	0	TJP1	27788406	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	CCC		TCGA-OE-A75W-01A-12D-A32N-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	0	0	8	859	0	132	0	1.947290e-02	0	20	0	132	2		0	0	0	0	0	2	1	0.989130	8	854	0	130	2		0	0	0	0	132	2	-2.276977	0	1	0	0		1	0	2	2	2.275188	1	0.570000	1.770000	0.570000	0.030000	0	1.000000	0.040000	0.089759	0.030000	0	1.000000e-02	5.000000e-02
VPS18	57617	broad.mit.edu	37	15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000220509.5	+	4	2180	c.1841G>A	c.(1840-1842)tGg>tAg	p.W614*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)			28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			GTAGATGCCTGGATTGAGATG	0.637000																								0							SO:0001587	stop_gained			ENST00000220509.5	0	1	hg19	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	40	8.369804	0.98781	.	.	ENSG00000104142	ENST00000220509	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9768	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	614	.	ENSP00000220509:W614X	W	+	2	0	VPS18	38980149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	TGG		TCGA-OE-A75W-01A-12D-A32N-08	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	0	0	0	21	504	1	118	0	1.427688e-01	2	29	1	118	3		0	0	0	0	0	2	1	0.835106	21	500	1	117	16		0	0	0	1	118	2	-2.927596	1	1	0	0		1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.140000	8.000000e-02	1.000000	0.140000	0.170823	0.140000	0	1.100000e-01	1.800000e-01
SEMA6D	80031	broad.mit.edu	37	15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000354744.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D			77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)			AGTTCAAGATGATCCAAACAC	0.433000																								0							SO:0001583	missense			ENST00000316364.5	1	1	hg19	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979420	0.53827	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.17854	2.25;2.25;2.27	5.49	5.49	0.81192	.	0.490778	0.22255	N	0.062495	T	0.11110	0.0271	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.23018	0.043	T	0.26916	-1.0089	10	0.17832	T	0.49	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	629	Q8NFY4	SEM6D_HUMAN	N	629;629;610	ENSP00000446152:D629N;ENSP00000324857:D629N;ENSP00000374084:D610N	ENSP00000324857:D629N	D	+	1	0	SEMA6D	45848189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.733000	0.93635	0.655000	0.94253	GAT		TCGA-OE-A75W-01A-12D-A32N-08	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	0	0	0	12	407	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.999078	12	402	0	61	2		0	0	0	0	62	2	-3.625637	1	1	0	0		1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.100000	5.000000e-02	1.000000	0.100000	0.133806	0.100000	0	7.000000e-02	1.400000e-01
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1			33				Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413000													Melanoma(142;1016 1807 39614 48966 51721)											0							SO:0001583	missense			ENST00000396402.1	0	1	hg19	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		TCGA-OE-A75W-01A-12D-A32N-08	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	0	0	0	6	630	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.964585	7	626	0	106	2		0	0	0	0	107	2	-1.959807	0	1	0	0		1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.030000	0	1.000000	0.040000	0.065686	0.030000	0	1.000000e-02	6.000000e-02
LMAN1L	79748	broad.mit.edu	37	15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like			19					ACCTGGCCAGCCCCCAAGGGC	0.602000																								0							SO:0001583	missense			ENST00000309664.5	1	1	hg19	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003432	0.19121	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.45276	1.06;0.9	4.95	-3.18	0.05186	.	4.451500	0.00424	N	0.000078	T	0.27205	0.0667	L	0.29908	0.895	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19391	0.025;0.002	T	0.05194	-1.0900	10	0.26408	T	0.33	.	1.6489	0.02767	0.1359:0.32:0.1328:0.4113	.	442;454	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	T	454;442	ENSP00000310431:P454T;ENSP00000369031:P442T	ENSP00000310431:P454T	P	+	1	0	LMAN1L	72903781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.646000	0.05403	-0.565000	0.06061	-1.288000	0.01363	CCC		TCGA-OE-A75W-01A-12D-A32N-08	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	1	0	1	252	679	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1.000000	248	666	0	176	2		0	0	0	0	177	2	-20.000000	1	1	121406	1	32	1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.940000	8.400000e-01	1.000000	1.000000	0.947453	0.940000	1	8.900000e-01	1
ACAN	176	broad.mit.edu	37	15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000561243.1	+	11	6428	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000439576.2_Missense_Mutation_p.R2143T			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		AACCTTGAGAGATCCTCTGGC	0.577000																								0							SO:0001583	missense			ENST00000561243.1	0	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.123810	0.00031	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01804	4.8;4.63	4.78	0.0257	0.14146	.	1.021840	0.07884	N	0.969992	T	0.00875	0.0029	N	0.03608	-0.345	0.09310	N	1	B;B	0.22346	0.041;0.068	B;B	0.17433	0.018;0.018	T	0.48479	-0.9032	10	0.13108	T	0.6	2.0912	4.3001	0.10920	0.1066:0.5139:0.2441:0.1353	.	2143;2143	E7ENV9;E7EX88	.;.	T	2143;2143;2029	ENSP00000387356:R2143T;ENSP00000341615:R2143T	ENSP00000268134:R2029T	R	+	2	0	ACAN	87203248	0.000000	0.05858	0.010000	0.14722	0.065000	0.16274	-0.708000	0.05035	0.410000	0.25675	0.555000	0.69702	AGA		TCGA-OE-A75W-01A-12D-A32N-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	0	0	8	564	0	134	0	2.624323e-03	0	5	0	134	2		0	0	0	0	0	2	1	0.989142	8	560	0	134	2		0	0	0	0	134	2	-3.147050	1	1	0	0		1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.040000	1.000000e-02	1.000000	0.050000	0.082215	0.040000	0	3.000000e-02	8.000000e-02
RCCD1	91433	broad.mit.edu	37	15	91500894	91500894	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000394258.2	+	4	820	c.618G>A	c.(616-618)gcG>gcA	p.A206A	AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556618.1_Silent_p.A206A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1			4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)		TGTTGGAGGCGTTGCAGGGCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000394258.2	0	1	hg19	CCDS32333.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	0	0	0	6	476	0	106	0	8.256143e-02	0	32	0	106	2		0	0	0	0	0	2	1	0.961869	6	463	0	104	2		0	0	0	0	106	2	-2.919649	1	1	121406	1	30	1	0	2	2	2.243088	1	0.570000	1.770000	0.570000	0.040000	0	1.000000	0.040000	0.077956	0.040000	0	2.000000e-02	7.000000e-02
IFT140	9742	broad.mit.edu	37	16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140			53		Hepatocellular(780;0.219)			GCTGCCTGTTGAGGTTGTGCT	0.522000																								0							SO:0001583	missense			ENST00000426508.2	0	1	hg19	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	7.782	0.709735	0.15239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.65178	-0.14;-0.14	5.53	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.614492	0.17548	N	0.170274	T	0.50922	0.1644	L	0.49126	1.545	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39313	-0.9620	10	0.31617	T	0.26	.	6.0312	0.19681	0.1449:0.0:0.7042:0.1509	.	39	Q96RY7	IF140_HUMAN	L	39	ENSP00000380562:S39L;ENSP00000406012:S39L	ENSP00000380562:S39L	S	-	2	0	IFT140	1597153	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.693000	0.25497	0.653000	0.30826	0.655000	0.94253	TCA		TCGA-OE-A75W-01A-12D-A32N-08	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	0	0	0	10	655	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	0.996638	10	644	0	133	2		0	0	0	0	134	2	-2.405791	0	1	0	0		1	0	0	0	2.054168	0	0.570000	1.770000	0.552130	0.040000	1.000000e-02	0.090000	0.050000	0.055501	0.040000	0	3.000000e-02	7.000000e-02
MYLK3	91807	broad.mit.edu	37	16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000394809.4	-	1	299	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	p.R62W(2)		37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)			TGCAGGCCCCGCTCCAGGTGG	0.652000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000394809.4	1	1	hg19	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694724	0.30052	2.27E-4	1.16E-4	ENSG00000140795	ENST00000394809	T	0.73152	-0.72	5.09	1.66	0.24008	.	0.248315	0.21157	N	0.079230	T	0.61022	0.2314	L	0.29908	0.895	0.09310	N	0.999997	D	0.63880	0.993	P	0.47470	0.548	T	0.55854	-0.8075	10	0.72032	D	0.01	.	9.4835	0.38915	0.0:0.1113:0.4457:0.443	.	62	Q32MK0	MYLK3_HUMAN	W	62	ENSP00000378288:R62W	ENSP00000378288:R62W	R	-	1	2	MYLK3	45339423	0.991000	0.36638	0.963000	0.40424	0.003000	0.03518	0.984000	0.29565	0.466000	0.27193	-0.500000	0.04577	CGG		TCGA-OE-A75W-01A-12D-A32N-08	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	1	0	1	65	169	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	64	166	0	48	2		0	0	0	0	48	2	-20.000000	1	1	121412	11	40	1	0	0	0	2.119491	0	0.570000	1.770000	0.567535	0.960000	7.700000e-01	1.000000	1.000000	0.943995	0.960000	1	8.600000e-01	1
GPR97	222487	broad.mit.edu	37	16	57714440	57714440	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	GPR97_ENST00000450388.3_Silent_p.T144T|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.T54T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	p.T264T(1)		30					ACCAGTCCACGGTGCATATCC	0.587000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000333493.4	1	1	hg19	CCDS10786.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	1	0	1	67	191	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1.000000	67	188	0	40	2		0	0	0	0	40	2	-4.695790	1	1	0	0		1	0	0	0	2.115270	0	0.570000	1.770000	0.565041	0.890000	7.200000e-01	1.000000	1.000000	0.896346	0.890000	1	8.000000e-01	1
CES3	23491	broad.mit.edu	37	16	67006386	67006386	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000303334.4	+	11	1490	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	CES3_ENST00000543856.1_Silent_p.L112L|CES3_ENST00000394037.1_Silent_p.L473L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3			24		Ovarian(137;0.0563)			GTCCCTTCCTCATGGACGAGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000303334.4	0	1	hg19	CCDS10826.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	0	0	0	12	580	0	131	0	1.499770e-01	1	30	0	131	2		0	0	0	0	0	2	1	0.999061	12	573	0	130	2		0	0	0	0	131	2	-2.595096	1	1	0	0		1	0	0	0	2.115270	0	0.570000	1.770000	0.565041	0.060000	3.000000e-02	0.120000	0.070000	0.075811	0.060000	0	4.000000e-02	1.000000e-01
ESRP2	80004	broad.mit.edu	37	16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000565858.1	-	11	1518	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.R468C	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2			16					CCTCGGAGGCGTACACAGTCC	0.622000																								0							SO:0001583	missense			ENST00000565858.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.6	4.012624	0.75161	.	.	ENSG00000103067	ENST00000473183	T	0.09163	3.01	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	-15.6647	20.3437	0.98782	0.0:0.0:1.0:0.0	.	478;468	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	C	468	ENSP00000418748:R468C	ENSP00000418748:R468C	R	-	1	0	ESRP2	66822996	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	6.459000	0.73513	2.815000	0.96918	0.561000	0.74099	CGC		TCGA-OE-A75W-01A-12D-A32N-08	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	0	0	0	4	275	0	82	0	2.322939e-01	0	51	0	82	2		0	0	0	0	0	2	1	0.890207	4	274	0	81	2		0	0	0	0	82	2	-4.970394	1	0	0	0		1	0	0	0	2.115270	0	0.570000	1.770000	0.565041	0.050000	1.000000e-02	0.120000	0.050000	0.061450	0.050000	0	2.000000e-02	9.000000e-02
NF1	4763	broad.mit.edu	37	17	29652851	29652851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29652851C>T	ENST00000358273.4	+	37	5232	c.4849C>T	c.(4849-4851)Caa>Taa	p.Q1617*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	p.0?(8)|p.?(3)	NF1/ACCN1(2)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)			CAAAACTGGTCAAATCAATGG	0.323000			D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)						SO:0001587	stop_gained	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ENST00000358273.4	0	1	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	47	13.673406	0.99756	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7588	0.91842	0.0:1.0:0.0:0.0	.	.	.	.	X	1617;1596;1262	.	ENSP00000348498:Q1596X	Q	+	1	0	NF1	26676977	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.456000	0.80751	2.697000	0.92050	0.655000	0.94253	CAA		TCGA-OE-A75W-01A-12D-A32N-08	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	0	0	0	5	381	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.937502	5	380	0	44	2		0	0	0	0	44	2	-3.083064	1	1	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.040000	0	0.100000	0.040000	0.053452	0.040000	0	2.000000e-02	7.000000e-02
NF1	4763	broad.mit.edu	37	17	29665118	29665118	+	Silent	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000356175.3_Silent_p.S2239S|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	p.0?(8)|p.?(3)	NF1/ACCN1(2)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)			AACGAGTGTCTCATGGGCAGA	0.403000			D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)						SO:0001819	synonymous_variant	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ENST00000358273.4	1	1	hg19	CCDS42292.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	1	0	0	61	716	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1.000000	61	712	0	140	2		0	0	0	0	143	2	-13.762360	1	1	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.260000	2.000000e-01	0.340000	0.270000	0.275802	0.260000	0	2.300000e-01	3.100000e-01
LIG3	3980	broad.mit.edu	37	17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent			31		Ovarian(249;0.17)		Bleomycin(DB00290)	CTGTCCAAGCTCACCAAGGAG	0.552000								Other BER factors																0							SO:0001583	missense			ENST00000378526.4	0	1	hg19	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480006	0.84747	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.21191	2.02;2.02	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.064354	0.64402	D	0.000004	T	0.46444	0.1393	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.957	T	0.38090	-0.9677	10	0.36615	T	0.2	-20.8443	14.9457	0.71029	0.0:0.0:0.0:1.0	.	387;387;387	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	H	387	ENSP00000367787:L387H;ENSP00000262327:L387H	ENSP00000262327:L387H	L	+	2	0	LIG3	30342921	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	CTC		TCGA-OE-A75W-01A-12D-A32N-08	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	0	0	0	8	287	0	68	0	2.975820e-03	0	3	0	68	2		0	0	0	0	0	2	1	0.989335	8	285	0	64	2		0	0	0	0	68	2	-9.291851	1	1	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.090000	4.000000e-02	0.180000	0.100000	0.104841	0.090000	0	6.000000e-02	1.400000e-01
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	p.R297H(1)		1		Breast(137;0.000812)			CTGCCTTTTGCGGGCCTGTTC	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000348513.6	1	1	hg19	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412636|3.412636	0.62511|0.62511	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.20598	.|2.07;2.06;2.3	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.048290	.|0.85682	.|D	.|0.000000	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.76071	.|0.987;0.98;0.98	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.72032	.|D	.|0.01	.|.	19.7017|19.7017	0.96057|0.96057	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;262;297	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	123|297;227;279;262;91	.|ENSP00000323967:R297H;ENSP00000445370:R279H;ENSP00000367039:R262H	.|ENSP00000323967:R297H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36040629|36040629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.978000|6.978000	0.76147|0.76147	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|CGC		TCGA-OE-A75W-01A-12D-A32N-08	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	1	0	0	125	365	0	93	1	1	108	252	0	93	2		0	0	0	0	0	2	1	1.000000	122	360	0	93	2		0	0	0	0	93	2	-5.881682	1	1	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.870000	7.500000e-01	1.000000	1.000000	0.885355	0.870000	1	8.100000e-01	9.500000e-01
VPS25	84313	broad.mit.edu	37	17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)			5		Breast(137;0.00104)			ACAACGTCAAGCTACAGCGTA	0.607000																								0							SO:0001583	missense			ENST00000253794.2	1	1	hg19	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419314	0.42918	.	.	ENSG00000131475	ENST00000253794	T	0.45276	0.9	5.64	4.67	0.58626	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.048195	0.85682	D	0.000000	T	0.30572	0.0769	L	0.41124	1.26	0.58432	D	0.999997	B	0.27117	0.168	B	0.25759	0.063	T	0.10359	-1.0633	10	0.30854	T	0.27	-27.0428	7.0885	0.25272	0.1496:0.0:0.7087:0.1416	.	64	Q9BRG1	VPS25_HUMAN	N	64	ENSP00000253794:K64N	ENSP00000253794:K64N	K	+	3	2	VPS25	38179415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.207000	0.42788	1.383000	0.46405	0.655000	0.94253	AAG		TCGA-OE-A75W-01A-12D-A32N-08	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	1	0	1	66	197	0	35	1	1	53	127	0	35	2		0	0	0	0	0	2	1	1.000000	64	194	0	34	2		0	0	0	0	35	2	-20.000000	1	1	0	0		1	0	0	0	2.108319	0	0.570000	1.770000	0.565041	0.860000	6.900000e-01	1.000000	1.000000	0.870295	0.860000	1	7.700000e-01	9.600000e-01
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	GRCh37	CM971506	TP53	M	rs121913344	SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		TCGA-OE-A75W-01A-12D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	120	174	1	74	1	9.879044e-01	2	11	1	74	2	1	1	253	344	1	960	6	1	1.000000	120	174	2	72	20		0	0	0	1	74	2	-20.000000	1	1	0	0		1	0	1	1	1.562258	1	0.570000	1.770000	0.398601	0.950000	8.500000e-01	1.000000	0.990000	0.953260	0.950000	1	9.000000e-01	9.900000e-01
CHD3	1107	broad.mit.edu	37	17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000330494.7	+	6	992	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CHD3_ENST00000358181.4_Missense_Mutation_p.R281H|CHD3_ENST00000380358.4_Missense_Mutation_p.R340H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			CCTGATGGACGCAAGAAGCTT	0.542000																								0							SO:0001583	missense			ENST00000330494.7	0	1	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571999	0.28092	0.0	1.16E-4	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.63;-2.62	5.29	5.29	0.74685	.	0.000000	0.44688	D	0.000423	T	0.80529	0.4640	N	0.22421	0.69	0.34035	D	0.654297	P;P;P	0.46220	0.871;0.874;0.874	B;B;B	0.35550	0.205;0.101;0.145	D	0.85691	0.1307	10	0.62326	D	0.03	-6.0171	7.7325	0.28796	0.0868:0.1663:0.7469:0.0	.	281;281;340	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	340;281;281	ENSP00000369716:R340H;ENSP00000350907:R281H;ENSP00000332628:R281H	ENSP00000332628:R281H	R	+	2	0	CHD3	7737896	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.480000	0.83734	0.650000	0.86243	CGC		TCGA-OE-A75W-01A-12D-A32N-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	0	0	0	6	645	0	167	0	0	0	1	0	167	2		0	0	0	0	0	2	1	0.963730	6	637	0	167	2		0	0	0	0	167	2	-2.038208	0	1	121412	10	45	1	0	1	1	1.562258	1	0.570000	1.770000	0.398601	0.020000	0	0.050000	0.020000	0.026824	0.020000	0	1.000000e-02	4.000000e-02
ARHGEF15	22899	broad.mit.edu	37	17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	rs143720339		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15			37					GAGGTGGGGCGCATGAAGCAG	0.612000																								0							SO:0001583	missense			ENST00000361926.3	0	1	hg19	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.358370	0.82243	2.27E-4	0.0	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.32515	1.45;1.45	5.29	5.29	0.74685	Dbl homology (DH) domain (1);	0.059270	0.64402	D	0.000004	T	0.51160	0.1658	L	0.59436	1.845	0.46113	D	0.998873	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.49679	-0.8914	10	0.54805	T	0.06	-18.0429	16.4339	0.83864	0.0:0.0:1.0:0.0	.	604;604	D3DTR7;O94989	.;ARHGF_HUMAN	H	604;394;604	ENSP00000355026:R604H;ENSP00000412505:R604H	ENSP00000355026:R604H	R	+	2	0	ARHGEF15	8162644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.368000	0.59505	2.470000	0.83445	0.555000	0.69702	CGC		TCGA-OE-A75W-01A-12D-A32N-08	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	0	0	0	4	194	0	73	0	2.187084e-03	0	3	0	73	2		0	0	0	0	0	2	1	0.890036	4	193	0	73	2		0	0	0	0	73	2	-3.072909	1	1	121412	2	29	1	0	1	1	1.562258	1	0.570000	1.770000	0.398601	0.050000	1.000000e-02	0.120000	0.050000	0.062232	0.050000	0	3.000000e-02	9.000000e-02
SMCHD1	23347	broad.mit.edu	37	18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1			45					GATGGGCCAAGAGCTTCAAGG	0.338000																								0							SO:0001583	missense			ENST00000320876.6	1	1	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527477	0.64860	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23552	1.9;1.91	5.61	5.61	0.85477	.	0.195294	0.46758	D	0.000274	T	0.32526	0.0832	L	0.51422	1.61	0.39011	D	0.959543	P	0.45044	0.849	P	0.45377	0.478	T	0.03157	-1.1066	10	0.32370	T	0.25	-17.716	18.627	0.91344	0.0:0.0:1.0:0.0	.	1166	A6NHR9	SMHD1_HUMAN	Q	1166	ENSP00000326603:E1166Q;ENSP00000261598:E1166Q	ENSP00000261598:E1166Q	E	+	1	0	SMCHD1	2729500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.796000	0.75145	2.642000	0.89623	0.650000	0.86243	GAG		TCGA-OE-A75W-01A-12D-A32N-08	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	1	0	0	5	133	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	0.936303	5	131	0	24	2		0	0	0	0	24	2	-7.731958	1	1	0	0		1	0	1	1	1.551594	1	0.570000	1.770000	0.403358	0.090000	3.000000e-02	0.200000	0.090000	0.107223	0.090000	0	6.000000e-02	1.500000e-01
LPHN1	22859	broad.mit.edu	37	19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	p.V1095I(1)		32					CAGTGAAAGACGAAGATGAAG	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000340736.6	1	1	hg19	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC		TCGA-OE-A75W-01A-12D-A32N-08	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	0	188	365	0	166	1	9.819391e-01	3	12	0	166	2		0	0	0	0	0	2	1	1.000000	185	364	0	163	2		0	0	0	0	166	2	-20.000000	1	1	121412	2	41	1	0	1	1	1.945463	1	0.570000	1.770000	0.493492	0.990000	8.900000e-01	1.000000	1.000000	0.981856	0.990000	1	9.400000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15271827	15271827	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15271827C>T	ENST00000263388.2	-	33	6687	c.6612G>A	c.(6610-6612)ccG>ccA	p.P2204P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		GCCGCTCCTGCGGGGAGACGG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000263388.2	1	1	hg19	CCDS12326.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0	6	33	0	20	0	9.959318e-01	0	66	0	20	2		0	0	0	0	0	2	1	0.966505	6	32	0	18	2		0	0	0	0	20	2	-13.643960	1	1	116512	1	21	1	0	1	1	1.923758	0	0.570000	1.770000	0.525360	0.500000	2.200000e-01	0.890000	0.480000	0.529496	0.500000	0	3.400000e-01	7.000000e-01
SPPL2B	56928	broad.mit.edu	37	19	2341000	2341000	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B					Hepatocellular(1079;0.137)			GGCGTCTTCCGCAACGAGGAC	0.701000																								0											ENST00000452401.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604692	0.66445	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	.	.	.	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84965	0.0879	7	0.87932	D	0	-33.5577	15.6943	0.77481	0.0:0.0:1.0:0.0	.	315;314	Q8TCT7;C9JFE6	PSL1_HUMAN;.	H	314;303	.	ENSP00000371624:R303H	R	+	2	0	AC004410.1	2292000	1.000000	0.71417	0.983000	0.44433	0.048000	0.14542	9.152000	0.94680	2.041000	0.60428	0.561000	0.74099	CGC		TCGA-OE-A75W-01A-12D-A32N-08	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	7	230	0	53	1	6.651939e-01	4	69	0	53	2		0	0	0	0	0	2	1	0.979864	7	226	0	52	2		0	0	0	0	53	2	-8.207476	1	1	121324	1	25	1	0	1	1	1.954477	0	0.570000	1.770000	0.532710	0.090000	4.000000e-02	0.190000	0.100000	0.107680	0.090000	0	6.000000e-02	1.400000e-01
ATP4A	495	broad.mit.edu	37	19	36043993	36043993	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCTCCCACTGCGCCCGCAGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000262623.3	0	1	hg19	CCDS12467.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	0	0	9	758	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	0.994034	9	752	0	159	2		0	0	0	0	163	2	-2.665716	1	1	121412	2	39	1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.030000	0	0.080000	0.040000	0.045314	0.030000	0	2.000000e-02	6.000000e-02
ARHGAP33	115703	broad.mit.edu	37	19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000007510.4	+	7	662	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	p.R173Q(1)		37					AATCACGGCCGGCGACTGCTC	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000007510.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590020	0.86851	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11930	3.08;2.73;3.15	4.84	3.8	0.43715	.	0.305936	0.23487	N	0.047642	T	0.21267	0.0512	L	0.49126	1.545	0.30529	N	0.767663	D;D	0.71674	0.998;0.974	P;P	0.58721	0.844;0.466	T	0.04537	-1.0944	10	0.54805	T	0.06	.	5.6018	0.17357	0.2761:0.0:0.7239:0.0	.	37;173	O14559-10;O14559-11	.;.	Q	173;173;37	ENSP00000007510:R173Q;ENSP00000320038:R173Q;ENSP00000368227:R37Q	ENSP00000007510:R173Q	R	+	2	0	ARHGAP33	40962969	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.552000	0.67281	2.227000	0.72691	0.561000	0.74099	CGG		TCGA-OE-A75W-01A-12D-A32N-08	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	545	0	98	0	0	0	1	0	98	2		0	0	0	0	0	2	1	0.936292	5	540	0	96	2		0	0	0	0	98	2	-2.673527	1	1	121412	1	37	1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.030000	0	0.070000	0.040000	0.037151	0.030000	0	1.000000e-02	5.000000e-02
PRODH2	58510	broad.mit.edu	37	19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2			21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GGTCAGCGCCGTCACCTTCAG	0.687000																								0							SO:0001583	missense			ENST00000301175.3	1	1	hg19	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186150	0.78789	.	.	ENSG00000250799	ENST00000301175	T	0.41065	1.01	4.85	4.85	0.62838	.	.	.	.	.	T	0.62986	0.2473	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.66925	-0.5800	9	0.66056	D	0.02	.	15.5053	0.75735	0.0:0.0:1.0:0.0	.	238	Q9UF12	PROD2_HUMAN	M	238	ENSP00000301175:T238M	ENSP00000301175:T238M	T	-	2	0	PRODH2	40994901	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.408000	0.80041	2.531000	0.85337	0.655000	0.94253	ACG		TCGA-OE-A75W-01A-12D-A32N-08	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	0	23	482	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	0.999999	22	478	0	89	2		0	0	0	0	90	2	-3.213168	1	1	121412	1	35	1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.150000	9.000000e-02	0.230000	0.160000	0.163953	0.150000	0	1.200000e-01	2.000000e-01
SIPA1L3	23094	broad.mit.edu	37	19	38682812	38682812	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		CCAAAAATGTCTTTGGGCAAC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000222345.6	1	1	hg19	CCDS33007.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1	58	234	0	50	1	8.951679e-01	4	14	0	50	2		0	0	0	0	0	2	1	1.000000	58	228	0	50	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.680000	5.300000e-01	0.850000	0.690000	0.694280	0.680000	0	6.000000e-01	7.700000e-01
RYR1	6261	broad.mit.edu	37	19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000359596.3	+	102	14678	c.14678G>A	c.(14677-14679)cGg>cAg	p.R4893Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R4888Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGGGTGTCCGGGCTGGCGGA	0.572000																								0		GRCh37	CM030713|CM061940	RYR1	M	rs118192151	SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959539	0.74016	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94457	-3.43;-3.43;-3.43	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	U	0.000015	D	0.98086	0.9369	M	0.94142	3.5	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.99081	1.0837	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4888;4893	P21817-2;P21817	.;RYR1_HUMAN	Q	4893;4888;4888	ENSP00000352608:R4893Q;ENSP00000347667:R4888Q;ENSP00000354254:R4888Q	ENSP00000347667:R4888Q	R	+	2	0	RYR1	43767454	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.656000	0.98514	2.658000	0.90341	0.449000	0.29647	CGG		TCGA-OE-A75W-01A-12D-A32N-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	37	262	0	65	0	1.630327e-02	0	2	0	65	2		0	0	0	0	0	2	1	1.000000	35	259	0	64	2		0	0	0	0	65	2	-2.559263	1	1	0	0		1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.420000	3.000000e-01	0.560000	0.430000	0.436794	0.420000	0	3.600000e-01	5.000000e-01
CYP2A6	1548	broad.mit.edu	37	19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	rs145036049	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6			37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TTTGACTCTGCGGGCCAAACT	0.572000																								0							SO:0001583	missense			ENST00000301141.5	0	1	hg19	CCDS12568.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	0.014	-1.595383	0.00857	2.27E-4	0.0	ENSG00000255974	ENST00000301141	T	0.77877	-1.13	2.76	0.567	0.17325	.	0.199062	0.42821	N	0.000649	T	0.50871	0.1641	N	0.02973	-0.45	0.09310	N	1	B;B	0.32693	0.105;0.38	B;B	0.43413	0.046;0.419	T	0.55885	-0.8070	10	0.02654	T	1	.	4.58	0.12253	0.0:0.4325:0.0:0.5675	.	372;372	Q13120;P11509	.;CP2A6_HUMAN	H	372	ENSP00000301141:R372H	ENSP00000301141:R372H	R	-	2	0	CYP2A6	46043085	0.000000	0.05858	0.056000	0.19401	0.181000	0.23173	-1.136000	0.03222	0.446000	0.26666	0.379000	0.24179	CGC		TCGA-OE-A75W-01A-12D-A32N-08	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	0	0	0	6	765	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	0.963015	6	751	0	133	2		0	0	0	0	133	2	-1.531743	0	1	121308	20	46	1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.020000	0	0.060000	0.020000	0.030430	0.020000	0	1.000000e-02	4.000000e-02
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	BCKDHA_ENST00000269980.2_5'Flank|BCKDHA_ENST00000457836.2_5'Flank|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|CTC-435M10.3_ENST00000604424.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5			7					CTGTTCGCAGGCAAAGTGCCG	0.582000																								0							SO:0001583	missense			ENST00000221233.4	0	1	hg19	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC		TCGA-OE-A75W-01A-12D-A32N-08	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	0	0	0	7	740	0	127	0	2.728728e-01	0	96	0	127	2		0	0	0	0	0	2	1	0.979893	6	733	0	125	2		0	0	0	0	127	2	-2.148347	0	1	0	0		1	0	0	0	2.108690	0	0.570000	1.770000	0.565041	0.030000	0	0.070000	0.040000	0.036700	0.030000	0	1.000000e-02	5.000000e-02
TNFAIP8L1	126282	broad.mit.edu	37	19	4652052	4652052	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q|AC005339.2_ENST00000598070.1_RNA	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1			1					AGGAGGCCCAGAAGATGCTCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000536716.1	1	1	hg19	CCDS12132.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458662.1	1	0	1	24	74	0	36	1	4.631738e-01	2	4	0	36	2		0	0	0	0	0	2	1	1.000000	23	73	0	35	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	0	1	1	1.954477	0	0.570000	1.770000	0.532710	0.780000	5.400000e-01	1.000000	1.000000	0.794521	0.780000	0	6.500000e-01	9.300000e-01
CD33	945	broad.mit.edu	37	19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000262262.4	+	1	26	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000436584.2_Missense_Mutation_p.P2L|CD33_ENST00000391796.3_Missense_Mutation_p.P2L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule			24		all_neural(266;0.0199)		Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652000																								0							SO:0001583	missense			ENST00000262262.4	1	1	hg19	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300790	0.10678	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39592	1.07;2.53;1.38;2.41	3.75	-4.49	0.03504	.	.	.	.	.	T	0.11793	0.0287	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28106	-1.0054	9	0.02654	T	1	.	5.3402	0.15979	0.0:0.2105:0.3616:0.4279	.	2;2;2	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	2	ENSP00000403331:P2L;ENSP00000262262:P2L;ENSP00000410126:P2L;ENSP00000375673:P2L	ENSP00000262262:P2L	P	+	2	0	CD33	56420191	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.283000	0.01155	-1.134000	0.02899	-1.099000	0.02127	CCG		TCGA-OE-A75W-01A-12D-A32N-08	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	1	20	205	0	29	0	8.926501e-03	0	2	0	29	2		0	0	0	0	0	2	1	0.999995	21	198	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	2.233574	0	0.570000	1.770000	0.579585	0.320000	2.000000e-01	1.000000	0.310000	0.373980	0.320000	0	2.600000e-01	4.200000e-01
KIR3DL2	3812	broad.mit.edu	37	19	55363669	55363669	+	Missense_Mutation	SNP	G	G	A	rs148964687	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:55363669G>A	ENST00000326321.3	+	3	320	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R96Q|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	p.R96Q(1)		23					TACAGATGTCGGGGTTCACGC	0.582000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000326321.3	1	0	hg19	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812014	0.16537	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.13657	2.57;2.57	1.03	-0.701	0.11269	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	5.841140	0.01572	U	0.020616	T	0.18425	0.0442	M	0.73372	2.23	0.09310	N	1	D;P	0.59357	0.985;0.938	B;B	0.43386	0.418;0.343	T	0.27191	-1.0081	10	0.66056	D	0.02	.	3.417	0.07380	0.5147:0.0:0.4853:0.0	.	96;96	Q95366;P43630	.;KI3L2_HUMAN	Q	96	ENSP00000325525:R96Q;ENSP00000270442:R96Q	ENSP00000270442:R96Q	R	+	2	0	KIR3DL2	60055481	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-1.794000	0.01753	-0.237000	0.09739	0.184000	0.17185	CGG		TCGA-OE-A75W-01A-12D-A32N-08	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1	1	0	0	51	421	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	49	389	0	106	2		0	0	0	0	85	2	-2.665581	1	1	115524	252	55	1	1	2	3	2.233574	0	0.570000	1.770000	0.579585	0.390000	2.900000e-01	1.000000	0.390000	0.432148	0.390000	0	3.300000e-01	4.600000e-01
NLRP9	338321	broad.mit.edu	37	19	56243922	56243922	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9			74		Colorectal(82;0.000133)|Ovarian(87;0.133)			CCCACATCACGCCCTCAGACT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000332836.2	1	1	hg19	CCDS12934.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	1	0	1	186	495	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1.000000	185	487	0	109	2		0	0	0	0	110	2	-9.029628	1	1	0	0		1	1	2	3	2.233574	0	0.570000	1.770000	0.579585	0.980000	8.500000e-01	1.000000	1.000000	0.967244	0.980000	1	9.100000e-01	1
ZNF471	57573	broad.mit.edu	37	19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000308031.5	+	5	1518	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471			36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TATGAATGCAAGGAATGTGGG	0.378000													Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0							SO:0001583	missense			ENST00000308031.5	1	1	hg19	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089753	0.36855	.	.	ENSG00000196263	ENST00000308031	T	0.08193	3.12	3.66	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.68317	2.08	0.09310	N	0.999999	D	0.69078	0.997	P	0.62649	0.905	T	0.09015	-1.0694	9	0.56958	D	0.05	.	4.605	0.12372	0.6982:0.1949:0.1069:0.0	.	462	Q9BX82	ZN471_HUMAN	M	462	ENSP00000309161:K462M	ENSP00000309161:K462M	K	+	2	0	ZNF471	61728633	0.000000	0.05858	0.954000	0.39281	0.962000	0.63368	-1.500000	0.02283	0.496000	0.27904	0.379000	0.24179	AAG		TCGA-OE-A75W-01A-12D-A32N-08	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	1	0	0	37	546	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1.000000	37	543	0	108	2		0	0	0	0	109	2	-8.202811	1	1	0	0		1	1	2	3	2.233574	0	0.570000	1.770000	0.579585	0.220000	1.600000e-01	1.000000	0.230000	0.282187	0.220000	0	1.900000e-01	2.800000e-01
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000601739.1_Missense_Mutation_p.E898K|FBN3_ENST00000270509.2_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3			132					ATCAGGCCCTCTGGACACTCA	0.622000																								0							SO:0001583	missense			ENST00000600128.1	1	1	hg19	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	4.459	0.085024	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92348	-3.02	4.0	-8.0	0.01126	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.296672	0.32884	N	0.005521	T	0.77315	0.4112	N	0.17564	0.495	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.62515	-0.6838	10	0.33940	T	0.23	.	4.9192	0.13862	0.084:0.3077:0.4089:0.1993	.	898	Q75N90	FBN3_HUMAN	K	898	ENSP00000270509:E898K	ENSP00000270509:E898K	E	-	1	0	FBN3	8096815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.712000	0.05013	-2.657000	0.00421	-1.887000	0.00540	GAG		TCGA-OE-A75W-01A-12D-A32N-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	0	0	10	297	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.996854	10	294	0	58	2		0	0	0	0	59	2	-10.576320	1	1	0	0		1	0	1	1	1.950536	0	0.570000	1.770000	0.528328	0.100000	5.000000e-02	0.180000	0.100000	0.113542	0.100000	0	7.000000e-02	1.500000e-01
CELF3	11189	broad.mit.edu	37	1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3			21					CAGGCTGGACGAGGCACCCTG	0.647000																								0							SO:0001583	missense			ENST00000290583.4	1	1	hg19	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.582586|4.582586	0.86748|0.86748	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.06449	.|3.3;3.3	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.10165|0.10165	0.0249|0.0249	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.998	.|P;D;D;P;P	.|0.64877	.|0.834;0.93;0.918;0.887;0.819	T|T	0.04078|0.04078	-1.0979|-1.0979	5|10	.|0.87932	.|D	.|0	-4.7861|-4.7861	14.6626|14.6626	0.68882|0.68882	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|165;165;164;165;164	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	C|L	166|165;165;164	.|ENSP00000290585:S165L;ENSP00000290583:S165L	.|ENSP00000290583:S165L	R|S	-|-	1|2	0|0	CELF3|CELF3	149947028|149947028	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.999000|0.999000	0.98932|0.98932	9.566000|9.566000	0.98157|0.98157	2.098000|2.098000	0.63641|0.63641	0.655000|0.655000	0.94253|0.94253	CGT|TCG		TCGA-OE-A75W-01A-12D-A32N-08	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	1	0	1	42	127	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1.000000	42	125	0	46	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.870000	6.600000e-01	1.000000	1.000000	0.874227	0.870000	1	7.600000e-01	1
PGLYRP3	114771	broad.mit.edu	37	1	153271680	153271680	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3			28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		CCCCTTCATACACGCCACCAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000290722.1	1	1	hg19	CCDS1035.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	1	0	1	40	85	0	31		0	0	0	0	31	2	0	0	0	1	0	0	2	1	1.000000	39	85	0	30	2		0	0	0	0	31	2	-20.000000	1	1	0	0		1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.990000	8.500000e-01	1.000000	1.000000	0.986701	0.990000	1	9.800000e-01	1
OR10J1	26476	broad.mit.edu	37	1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1			25	all_hematologic(112;0.0429)				CAGTGTGCTGGTGCTTGTTGT	0.453000																								0							SO:0001583	missense			ENST00000423932.3	1	1	hg19	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855739	0.51376	.	.	ENSG00000196184	ENST00000423932	T	0.00036	8.86	4.42	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002096	T	0.00073	0.0002	N	0.25245	0.725	0.09310	N	1	D	0.55385	0.971	P	0.58577	0.841	T	0.04440	-1.0951	10	0.45353	T	0.12	.	6.6645	0.23032	0.0986:0.1797:0.7217:0.0	.	216	P30954	O10J1_HUMAN	L	216	ENSP00000399078:V216L	ENSP00000399078:V216L	V	+	1	0	OR10J1	157676818	0.000000	0.05858	0.028000	0.17463	0.974000	0.67602	-0.144000	0.10280	1.155000	0.42497	0.650000	0.86243	GTG		TCGA-OE-A75W-01A-12D-A32N-08	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	1	0	1	161	411	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1.000000	161	409	0	107	2		0	0	0	0	107	2	-20.000000	1	1	0	0		1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.980000	8.600000e-01	1.000000	1.000000	0.970913	0.980000	1	9.200000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000367573.2	+	28	3956	c.3956C>G	c.(3955-3957)aCg>aGg	p.T1319R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1300R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					TTTTATTGCACGGACAGTTCC	0.453000																								0							SO:0001583	missense			ENST00000367573.2	0	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707504	0.89018	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.982;0.998	D	0.99882	1.1115	10	0.87932	D	0	.	18.524	0.90965	0.0:1.0:0.0:0.0	.	1300;1319;1319	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1319;1300;1270;1251;926;1300;1319	ENSP00000356542:T1319R;ENSP00000434814:T1300R;ENSP00000350183:T1270R;ENSP00000351101:T1251R;ENSP00000356539:T926R;ENSP00000353222:T1300R;ENSP00000356545:T1319R	ENSP00000350183:T1270R	T	+	2	0	CACNA1E	179991123	1.000000	0.71417	0.934000	0.37439	0.977000	0.68977	7.676000	0.84012	2.468000	0.83385	0.650000	0.86243	ACG		TCGA-OE-A75W-01A-12D-A32N-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	0	0	0	11	676	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	0.998205	11	667	0	147	2		0	0	0	0	149	2	-2.512174	1	1	0	0		1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.050000	2.000000e-02	0.110000	0.060000	0.070560	0.050000	0	3.000000e-02	8.000000e-02
RGS16	6004	broad.mit.edu	37	1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16			11					CCCCTGAGCCGCATCAAAGCA	0.602000																								0							SO:0001583	missense			ENST00000367558.5	0	1	hg19	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927175	0.00493	.	.	ENSG00000143333	ENST00000367558	T	0.01998	4.51	5.38	-2.44	0.06502	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	1.166690	0.05992	N	0.646171	T	0.01320	0.0043	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47086	-0.9144	10	0.06891	T	0.86	.	5.0723	0.14613	0.4925:0.0:0.2363:0.2712	.	154	O15492	RGS16_HUMAN	V	154	ENSP00000356529:A154V	ENSP00000356529:A154V	A	-	2	0	RGS16	180836198	0.000000	0.05858	0.065000	0.19835	0.001000	0.01503	-0.510000	0.06328	-0.202000	0.10268	-1.223000	0.01593	GCG		TCGA-OE-A75W-01A-12D-A32N-08	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	0	0	0	6	564	0	98	0	4.601121e-01	0	132	0	98	2		0	0	0	0	0	2	1	0.963570	6	556	0	97	2		0	0	0	0	98	2	-1.819585	0	1	121412	1	28	1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.030000	0	0.090000	0.040000	0.052300	0.030000	0	1.000000e-02	6.000000e-02
HMCN1	83872	broad.mit.edu	37	1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					AGAATAATACGTGCCAAAATT	0.318000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821570	0.16678	0.0	4.65E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29397	1.57;1.57	5.13	-0.313	0.12754	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.353337	0.33272	N	0.005100	T	0.11452	0.0279	N	0.11201	0.11	0.27937	N	0.937675	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.13853	T	0.58	.	5.0568	0.14537	0.6639:0.0:0.2126:0.1235	.	4909	Q96RW7	HMCN1_HUMAN	H	4909	ENSP00000271588:R4909H;ENSP00000356462:R4909H	ENSP00000271588:R4909H	R	+	2	0	HMCN1	184387072	1.000000	0.71417	0.714000	0.30535	0.586000	0.36452	3.507000	0.53371	-0.275000	0.09219	-1.311000	0.01308	CGT		TCGA-OE-A75W-01A-12D-A32N-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	89	249	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	89	247	0	71	2		0	0	0	0	71	2	-20.000000	1	1	121412	23	44	1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.920000	7.600000e-01	1.000000	1.000000	0.922361	0.920000	1	8.400000e-01	1
UBR4	23352	broad.mit.edu	37	1	19420503	19420503	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19420503C>G	ENST00000375254.3	-	95	13904	c.13877G>C	c.(13876-13878)gGa>gCa	p.G4626A	UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000375267.2_Missense_Mutation_p.G4626A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A|UBR4_ENST00000467272.2_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			CTCCACCTCTCCAAAGGAAAG	0.468000																								0							SO:0001583	missense			ENST00000375254.3	0	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134565	0.94517	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.995;0.997;0.992	T	0.76146	-0.3066	10	0.72032	D	0.01	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	290;149;4626;4602	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	A	4626;4626;4619;4602;333;149;290	ENSP00000364403:G4626A;ENSP00000364416:G4626A;ENSP00000364365:G4619A;ENSP00000364374:G4602A;ENSP00000364372:G333A;ENSP00000394173:G149A;ENSP00000444070:G290A	ENSP00000364365:G4619A	G	-	2	0	UBR4	19293090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.785000	0.95823	0.591000	0.81541	GGA		TCGA-OE-A75W-01A-12D-A32N-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0	4	158	0	41	0	1.612476e-01	1	22	0	41	2		0	0	0	0	0	2	1	0.888428	4	156	0	41	2		0	0	0	0	41	2	-6.078562	1	1	0	0		1	0	0	0	2.104551	0	0.570000	1.770000	0.565041	0.090000	2.000000e-02	0.200000	0.080000	0.105247	0.090000	0	5.000000e-02	1.500000e-01
UBR4	23352	broad.mit.edu	37	1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375254.3	-	60	8807	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2927L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			TGGTCCAGCCGGATGCCCCTC	0.542000																								0							SO:0001583	missense			ENST00000375254.3	0	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867697	0.51588	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.27256	1.74;1.74;1.68;1.7	5.83	4.89	0.63831	.	0.056992	0.64402	D	0.000001	T	0.25158	0.0611	L	0.57536	1.79	0.80722	D	1	P	0.36768	0.569	B	0.29663	0.105	T	0.05053	-1.0909	10	0.42905	T	0.14	.	15.9733	0.80036	0.0:0.0:0.8646:0.1354	.	2927	Q5T4S7	UBR4_HUMAN	L	2927;2927;2920;2903;535;1613	ENSP00000364403:P2927L;ENSP00000364416:P2927L;ENSP00000364365:P2920L;ENSP00000364374:P2903L	ENSP00000364365:P2920L	P	-	2	0	UBR4	19337214	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.308000	0.78929	2.770000	0.95276	0.655000	0.94253	CCG		TCGA-OE-A75W-01A-12D-A32N-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0	4	152	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.888342	4	150	0	19	2		0	0	0	0	19	2	-3.150066	1	1	121410	5	34	1	0	0	0	2.104551	0	0.570000	1.770000	0.565041	0.090000	2.000000e-02	0.210000	0.090000	0.109226	0.090000	0	5.000000e-02	1.500000e-01
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T	rs55775404		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)			82					CTTACGCATGCGACACCCACC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000367049.4	0	1	hg19	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG		TCGA-OE-A75W-01A-12D-A32N-08	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	0	0	6	686	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	0.963962	6	679	0	121	2		0	0	0	0	122	2	-2.014208	0	1	120864	4	41	1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.020000	0	0.070000	0.040000	0.044310	0.020000	0	1.000000e-02	5.000000e-02
HSPG2	3339	broad.mit.edu	37	1	22186350	22186350	+	Silent	SNP	G	G	A	rs138980184	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22186350G>A	ENST00000374695.3	-	41	5239	c.5160C>T	c.(5158-5160)agC>agT	p.S1720S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2			127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Palifermin(DB00039)	GCTGGGTGCCGCTGGGCACAG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000374695.3	0	1	hg19	CCDS30625.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	0	0	0	4	101	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	0.891773	4	101	0	24	2		0	0	0	0	26	2	-6.996568	1	1	121094	98	47	1	0	0	0	2.104551	0	0.570000	1.770000	0.565041	0.140000	4.000000e-02	0.310000	0.140000	0.160914	0.140000	0	8.000000e-02	2.300000e-01
ARF1	375	broad.mit.edu	37	1	228285699	228285699	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1			10		Prostate(94;0.0405)			CCAATCAGCTCCGGAACCAGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000541182.1	1	1	hg19	CCDS1565.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	1	0	1	23	260	0	54	1	1	113	676	0	54	2		0	0	0	0	0	2	1	0.999999	22	249	0	53	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	1	2	3	2.165351	0	0.570000	1.770000	0.572437	0.280000	1.800000e-01	0.430000	0.290000	0.303269	0.280000	0	2.300000e-01	3.600000e-01
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A			21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			CTGCCTTTGGCCGGGCCATGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000373087.6	0	1	hg19	CCDS417.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	0	0	0	6	578	0	189	0	3.360051e-01	0	102	0	189	2		0	0	0	0	0	2	1	0.963605	6	570	0	185	2		0	0	0	0	189	2	-1.790340	0	1	0	0		1	0	1	1	1.593368	1	0.570000	1.770000	0.403358	0.020000	0	0.050000	0.030000	0.030143	0.020000	0	1.000000e-02	4.000000e-02
MAST2	23139	broad.mit.edu	37	1	46491369	46491369	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2			11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)				TGCCACTCTGCTGAAGAATAT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000361297.2	1	1	hg19	CCDS41326.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	1	0	0	124	154	0	69	0	8.896811e-01	1	6	0	69	2		0	0	0	0	0	2	1	1.000000	122	154	0	67	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	0	1	1	1.593368	1	0.570000	1.770000	0.403358	0.990000	9.100000e-01	1.000000	1.000000	0.984168	0.990000	1	9.500000e-01	1
ZCCHC11	23318	broad.mit.edu	37	1	52927392	52927392	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:52927392C>A	ENST00000371544.3	-	17	3381	c.3119G>T	c.(3118-3120)aGa>aTa	p.R1040I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					ACCTGGATGTCTCTTAAGAAT	0.214000																								0							SO:0001583	missense			ENST00000371544.3	0	1	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703685	0.68501	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.45	4.53	0.55603	Nucleotidyl transferase domain (1);	0.053333	0.64402	D	0.000001	T	0.49712	0.1573	L	0.49640	1.575	0.80722	D	1	B;D	0.63046	0.112;0.992	B;D	0.67382	0.18;0.951	T	0.53201	-0.8472	10	0.56958	D	0.05	.	3.6343	0.08143	0.229:0.5995:0.0:0.1715	.	799;1040	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	1040;1040;969;799	ENSP00000257177:R1040I;ENSP00000360599:R1040I;ENSP00000433486:R969I;ENSP00000435256:R799I	ENSP00000257177:R1040I	R	-	2	0	ZCCHC11	52699980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.550000	0.86006	0.585000	0.79938	AGA		TCGA-OE-A75W-01A-12D-A32N-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1	9	21	0	9	0	1.041667e-01	1	1	0	9	2		0	0	0	0	0	2	1	0.996000	9	20	0	9	2		0	0	0	0	9	2	-19.907490	1	1	0	0		1	0	1	1	1.593368	1	0.570000	1.770000	0.403358	0.710000	3.900000e-01	0.990000	1.000000	0.717604	0.710000	0	5.400000e-01	8.900000e-01
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3			11					TGGTCTCATGCCGCTGCCGTA	0.562000																								0							SO:0001583	missense			ENST00000371320.3	0	1	hg19	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		TCGA-OE-A75W-01A-12D-A32N-08	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	0	0	0	6	924	0	296	0	8.153054e-02	0	61	0	296	2		0	0	0	0	0	2	1	0.961700	6	898	0	296	2		0	0	0	0	296	2	-1.725707	0	1	0	0		1	0	1	1	1.593368	1	0.570000	1.770000	0.403358	0.010000	0	0.040000	0.020000	0.018688	0.010000	0	0	3.000000e-02
TASP1	55617	broad.mit.edu	37	20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1			31					CCAACTCTCCCCGGATGTTTC	0.463000																								0							SO:0001583	missense			ENST00000337743.4	1	1	hg19	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976123	0.92982	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.97529	-4.42;-4.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98931	1.0787	10	0.87932	D	0	-9.528	19.3476	0.94372	0.0:1.0:0.0:0.0	.	261;238	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	R	238;261;238	ENSP00000338624:G261R;ENSP00000400580:G238R	ENSP00000338624:G261R	G	-	1	0	TASP1	13462683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.031000	0.76491	2.666000	0.90696	0.563000	0.77884	GGG		TCGA-OE-A75W-01A-12D-A32N-08	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	1	0	0	39	548	0	108	0	9.930690e-02	0	8	0	108	2		0	0	0	0	0	2	1	1.000000	38	542	0	105	2		0	0	0	0	108	2	-2.690403	1	1	0	0		1	0	0	0	2.102693	0	0.570000	1.770000	0.565041	0.220000	1.600000e-01	0.310000	0.230000	0.235261	0.220000	0	1.900000e-01	2.700000e-01
CBFA2T2	9139	broad.mit.edu	37	20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000346541.3	+	12	2102	c.1565A>T	c.(1564-1566)aAt>aTt	p.N522I	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2			20					AGTGGCTGCAATATCGCGCGA	0.602000													Esophageal Squamous(174;142 1955 14837 21276 28041)											0							SO:0001583	missense			ENST00000346541.3	1	1	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091645	0.94149	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.72;1.3	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74518	-0.3639	10	0.87932	D	0	-4.7166	16.1193	0.81336	1.0:0.0:0.0:0.0	.	522;513	O43439;F8W6D7	MTG8R_HUMAN;.	I	296;522;513;522;493;532;70	ENSP00000364428:N522I;ENSP00000345810:N513I;ENSP00000262653:N522I;ENSP00000380902:N493I;ENSP00000352622:N532I	ENSP00000345810:N513I	N	+	2	0	CBFA2T2	31695863	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	AAT		TCGA-OE-A75W-01A-12D-A32N-08	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1	125	367	0	105	1	9.998292e-01	13	27	0	105	2		0	0	0	0	0	2	1	1.000000	124	362	0	104	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	0	0	0	2.102693	0	0.570000	1.770000	0.565041	0.870000	7.400000e-01	1.000000	0.880000	0.881970	0.870000	1	8.000000e-01	9.500000e-01
CDH4	1002	broad.mit.edu	37	20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)			74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		GGGATGGTGCGGTACCGGATC	0.612000																								0							SO:0001583	missense			ENST00000360469.5	0	1	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949030	0.73787	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.92	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.45816	0.1361	L	0.58354	1.805	0.36334	D	0.859075	D	0.53745	0.962	P	0.46208	0.507	T	0.54886	-0.8226	9	.	.	.	.	8.4155	0.32668	0.0789:0.0:0.7685:0.1527	.	315	P55283	CADH4_HUMAN	Q	315;223;241	ENSP00000353656:R315Q;ENSP00000443301:R241Q	.	R	+	2	0	CDH4	59882245	1.000000	0.71417	0.967000	0.41034	0.735000	0.41995	6.559000	0.73946	1.068000	0.40764	0.585000	0.79938	CGG		TCGA-OE-A75W-01A-12D-A32N-08	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	0	0	5	602	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	0.937501	5	601	0	116	2		0	0	0	0	116	2	-2.515517	1	1	121410	5	39	1	0	0	0	2.102693	0	0.570000	1.770000	0.565041	0.020000	0	0.070000	0.030000	0.033465	0.020000	0	1.000000e-02	5.000000e-02
COL6A2	1292	broad.mit.edu	37	21	47532333	47532333	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47532333C>A	ENST00000300527.4	+	3	660	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000397763.1_Silent_p.R186R|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				GGAGGGCATCCGGCTCTTCGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000300527.4	0	1	hg19	CCDS13728.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0	0	0	4	82	0	43	0	9.997067e-01	0	519	0	43	2		0	0	0	0	0	2	1	0.892036	4	82	0	41	2		0	0	0	0	43	2	-7.546148	1	1	0	0		1	0	1	1	1.552496	1	0.570000	1.770000	0.398601	0.120000	4.000000e-02	0.270000	0.120000	0.140065	0.120000	0	7.000000e-02	2.000000e-01
DGCR8	54487	broad.mit.edu	37	22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	AC006547.8_ENST00000412713.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit			22	Colorectal(54;0.0993)				CAAGCTCCAAGAGGAGATGAA	0.577000																								0							SO:0001583	missense			ENST00000351989.3	0	1	hg19	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181797	0.94885	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.42;1.51;1.51	5.22	5.22	0.72569	.	0.048942	0.85682	D	0.000000	T	0.45115	0.1326	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.824	T	0.21314	-1.0249	10	0.33141	T	0.24	-10.5121	17.5395	0.87843	0.0:0.0:1.0:0.0	.	704;737	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	737;704;704	ENSP00000263209:E737K;ENSP00000372488:E704K;ENSP00000384726:E704K	ENSP00000263209:E737K	E	+	1	0	DGCR8	18476497	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.096000	0.94182	2.428000	0.82296	0.462000	0.41574	GAG		TCGA-OE-A75W-01A-12D-A32N-08	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	0	0	0	9	351	0	70	0	1.836840e-01	0	28	0	70	2		0	0	0	0	0	2	1	0.994142	8	349	0	70	2		0	0	0	0	70	2	-3.591107	1	1	0	0		1	2	2	4	2.275507	0	0.570000	1.770000	0.595370	0.090000	4.000000e-02	1.000000	0.090000	0.182554	0.090000	0	6.000000e-02	1.500000e-01
ZNF70	7621	broad.mit.edu	37	22	24086056	24086056	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70			21					AGGACTTGCCGCACAGATTGC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000341976.3	0	1	hg19	CCDS13812.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	0	0	0	6	857	1	181		0	0	0	1	181	2		0	0	0	0	0	2	0	0.015404	8	844	1	179	17		0	0	0	1	181	2	-1.930780	0	1	121412	1	33	1						0.570000	1.770000									0	0
CRYBB1	1414	broad.mit.edu	37	22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1			31					TGTGTTCCAGCGAGGGTACTC	0.592000																								0							SO:0001583	missense			ENST00000215939.2	1	1	hg19	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582400	0.86748	.	.	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	4.4	3.36	0.38483	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.105598	0.64402	D	0.000003	T	0.82157	0.4976	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83373	0.0008	10	0.66056	D	0.02	.	13.3936	0.60836	0.0:0.8408:0.1592:0.0	.	123	P53674	CRBB1_HUMAN	H	123	ENSP00000215939:R123H	ENSP00000215939:R123H	R	-	2	0	CRYBB1	25333917	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.906000	0.48735	1.041000	0.40125	0.585000	0.79938	CGC		TCGA-OE-A75W-01A-12D-A32N-08	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	1	0	1	52	215	0	56	0	3.911439e-02	0	2	0	56	2		0	0	0	0	0	2	1	1.000000	51	212	0	56	2		0	0	0	0	56	2	-20.000000	1	1	0	0		1	0	1	1	1.977177	0	0.570000	1.770000	0.529798	0.620000	4.700000e-01	0.780000	0.620000	0.630119	0.620000	0	5.400000e-01	7.000000e-01
L3MBTL2	83746	broad.mit.edu	37	22	41625557	41625557	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)			24					AAAGAATCCCGCCCACTAAGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000216237.5	1	1	hg19	CCDS14011.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	1	0	1	62	130	0	44	1	1	31	62	0	44	2		0	0	0	0	0	2	1	1.000000	62	129	0	44	2		0	0	0	0	44	2	-20.000000	1	1	121410	1	31	1	0	1	1	1.977177	0	0.570000	1.770000	0.529798	0.990000	8.200000e-01	1.000000	1.000000	0.973512	0.990000	1	9.200000e-01	1
ALG12	79087	broad.mit.edu	37	22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase			12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			ACGATGATGGCGAAGGCTGAC	0.637000																								0							SO:0001583	missense			ENST00000330817.6	1	1	hg19	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939391	0.52972	.	.	ENSG00000182858	ENST00000330817	T	0.64991	-0.13	4.44	3.42	0.39159	.	0.161366	0.53938	D	0.000044	T	0.65729	0.2719	L	0.58302	1.8	0.42474	D	0.992838	D	0.54772	0.968	P	0.51079	0.658	T	0.66559	-0.5893	10	0.35671	T	0.21	-16.6342	13.9771	0.64279	0.0:0.9236:0.0:0.0764	.	179	Q9BV10	ALG12_HUMAN	T	179	ENSP00000333813:A179T	ENSP00000333813:A179T	A	-	1	0	ALG12	48689675	0.995000	0.38212	0.008000	0.14137	0.008000	0.06430	3.331000	0.52075	1.166000	0.42689	-0.205000	0.12727	GCC		TCGA-OE-A75W-01A-12D-A32N-08	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	1	0	0	22	85	0	26	1	9.290455e-01	5	15	0	26	2		0	0	0	0	0	2	1	1.000000	22	85	0	26	2		0	0	0	0	26	2	-20.000000	1	1	0	0		1	0	1	1	1.977177	0	0.570000	1.770000	0.529798	0.650000	4.300000e-01	0.910000	0.650000	0.671167	0.650000	0	5.400000e-01	7.900000e-01
SCN3A	6328	broad.mit.edu	37	2	165997338	165997338	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000360093.3	-	13	2333	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000283254.7_Silent_p.P614P|SCN3A_ENST00000409101.3_Silent_p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit			120				Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTCTGTGCGGCACAAACA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000360093.3	0	1	hg19																																																																																					TCGA-OE-A75W-01A-12D-A32N-08	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	6	247	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.962825	6	241	0	34	2		0	0	0	0	35	2	-2.590124	1	1	121410	1	35	1	1	2	3	2.171289	0	0.570000	1.770000	0.572437	0.080000	3.000000e-02	0.190000	0.080000	0.105436	0.080000	0	5.000000e-02	1.300000e-01
NOSTRIN	115677	broad.mit.edu	37	2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000317647.7	+	13	1403	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking			9					CAGGTGGAGGGAAAAGGTAAC	0.438000																								0							SO:0001583	missense			ENST00000317647.7	0	1	hg19	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127768	0.77549	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.38560	1.3;1.3;1.13;1.32;1.32;1.33;1.33	5.3	5.3	0.74995	.	0.162747	0.53938	D	0.000056	T	0.59649	0.2209	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.64830	0.98;0.991;0.994;0.994;0.969;0.987	P;P;P;P;P;P	0.58331	0.663;0.837;0.798;0.783;0.599;0.776	T	0.56275	-0.8006	10	0.28530	T	0.3	-0.2101	16.7834	0.85568	0.0:0.0:1.0:0.0	.	364;314;449;286;392;449	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	Q	449;449;392;314;314;364;364	ENSP00000402140:E449Q;ENSP00000394051:E449Q;ENSP00000318921:E392Q;ENSP00000404413:E314Q;ENSP00000380390:E314Q;ENSP00000380392:E364Q;ENSP00000401316:E364Q	ENSP00000318921:E392Q	E	+	1	0	NOSTRIN	169424388	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.770000	0.74990	2.630000	0.89119	0.655000	0.94253	GAA		TCGA-OE-A75W-01A-12D-A32N-08	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	0	0	0	6	521	0	83	0	3.799201e-01	0	102	0	83	2		0	0	0	0	0	2	1	0.964109	6	516	0	81	2		0	0	0	0	83	2	-2.919711	1	1	0	0		1	1	2	3	2.171289	0	0.570000	1.770000	0.572437	0.030000	0	0.090000	0.040000	0.055877	0.030000	0	2.000000e-02	7.000000e-02
TTN	7273	broad.mit.edu	37	2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000591111.1	-	289	88671	c.88447G>A	c.(88447-88449)Gat>Aat	p.D29483N	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31124N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTGCTAGTATCAACAACATCA	0.483000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.66	3.869050	0.72065	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69860	0.3158	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.71144	-0.4678	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22059;22184;22251;29483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28556;22059;22251;22184;22056	ENSP00000343764:D28556N;ENSP00000434586:D22059N;ENSP00000340554:D22251N;ENSP00000352154:D22184N	ENSP00000340554:D22251N	D	-	1	0	TTN	179121229	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GAT		TCGA-OE-A75W-01A-12D-A32N-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	14	652	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	0.999731	13	645	0	148	2		0	0	0	0	149	2	-2.624656	1	1	0	0		1	0	0	0	2.059777	0	0.570000	1.770000	0.552130	0.060000	3.000000e-02	0.120000	0.070000	0.075555	0.060000	0	4.000000e-02	1.000000e-01
TTN	7273	broad.mit.edu	37	2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000591111.1	-	53	15364	c.15140G>A	c.(15139-15141)cGc>cAc	p.R5047H	TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R5364H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATCCACGTTGCGCAAGGGTTT	0.453000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.90	1.480091	0.26598	2.58E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71576	0.3356	M	0.75884	2.315	0.80722	D	1	D	0.57571	0.98	P	0.48921	0.595	T	0.75557	-0.3276	9	0.87932	D	0	.	12.1123	0.53846	0.0:0.8742:0.0:0.1258	.	5047	Q8WZ42	TITIN_HUMAN	H	4120	ENSP00000343764:R4120H	ENSP00000343764:R4120H	R	-	2	0	TTN	179306057	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.216000	0.51176	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-OE-A75W-01A-12D-A32N-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	28	96	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	28	93	0	28	2		0	0	0	0	30	2	-20.000000	1	1	120876	18	41	1	1	2	3	2.168169	0	0.570000	1.770000	0.572437	0.790000	5.600000e-01	1.000000	1.000000	0.804195	0.790000	0	6.700000e-01	9.400000e-01
TTN	7273	broad.mit.edu	37	2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	rs150737838	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000591111.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000589042.1_Missense_Mutation_p.R1752H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATTGATCATACGGAGCCTGTT	0.478000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.20	2.166946	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76877	0.4049	L	0.41079	1.255	0.38775	D	0.954622	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.80984	-0.1138	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752H;ENSP00000434586:R1706H;ENSP00000340554:R1706H;ENSP00000352154:R1706H;ENSP00000354117:R1752H	ENSP00000340554:R1706H	R	-	2	0	TTN	179349581	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	4.864000	0.62990	2.363000	0.80096	0.561000	0.74099	CGT		TCGA-OE-A75W-01A-12D-A32N-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	92	183	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	91	182	0	70	2		0	0	0	0	71	2	-20.000000	1	1	121408	25	45	1	1	2	3	2.168169	0	0.570000	1.770000	0.572437	0.990000	9.800000e-01	1.000000	1.000000	0.998847	0.990000	1	9.900000e-01	1
MYT1L	23040	broad.mit.edu	37	2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			CCACTGCCGTCACAGCCAGGG	0.512000																								0							SO:0001583	missense			ENST00000399161.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935617	0.73442	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.138574	0.46442	D	0.000293	T	0.52517	0.1739	N	0.24115	0.695	0.58432	D	0.999996	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.981	T	0.55749	-0.8092	10	0.51188	T	0.08	-38.9835	18.6852	0.91560	0.0:1.0:0.0:0.0	.	37;37	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	37	ENSP00000382114:D37N;ENSP00000396103:D37N	ENSP00000295067:D37N	D	-	1	0	MYT1L	1961987	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GAC		TCGA-OE-A75W-01A-12D-A32N-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1	31	59	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1.000000	31	59	0	14	2		0	0	0	0	15	2	-20.000000	1	1	0	0		1	0	1	1	1.536997	1	0.570000	1.770000	0.398601	0.830000	6.100000e-01	0.990000	0.850000	0.829425	0.830000	0	7.200000e-01	9.300000e-01
NDUFB3	4709	broad.mit.edu	37	2	201943722	201943722	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000433898.1_Silent_p.K39K|RNU6-1206P_ENST00000516339.1_RNA|NDUFB3_ENST00000454214.1_Silent_p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa			3					TGGCTGCAAAAGGGCTAAGGG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000237889.4	0	1	hg19	CCDS2336.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	0	0	0	4	215	0	29	0	9.979281e-01	1	817	0	29	2		0	0	0	0	0	2	1	0.885690	4	211	0	29	2		0	0	0	0	29	2	-2.995412	1	1	0	0		1	1	2	3	2.168169	0	0.570000	1.770000	0.572437	0.070000	1.000000e-02	0.170000	0.060000	0.088540	0.070000	0	3.000000e-02	1.200000e-01
NRP2	8828	broad.mit.edu	37	2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000357785.5	+	3	443	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000360409.3_Missense_Mutation_p.R138C|NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C			Q99435	NELL2_HUMAN	neuropilin 2			52					CTTCTCTCTGCGCTACGAGAT	0.617000																								0							SO:0001583	missense			ENST00000357785.5	0	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331934	0.95733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	6.17	6.17	0.99709	CUB (5);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.79108	0.983;0.983;0.9;0.992;0.992;0.971	T	0.65187	-0.6229	10	0.87932	D	0	-22.1386	20.8794	0.99867	0.0:1.0:0.0:0.0	.	138;138;138;138;138;138	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	138	ENSP00000353582:R138C;ENSP00000439658:R138C;ENSP00000439261:R138C;ENSP00000347238:R138C;ENSP00000387519:R138C;ENSP00000349632:R138C;ENSP00000350432:R138C;ENSP00000407626:R138C;ENSP00000272849:R138C	ENSP00000272849:R138C	R	+	1	0	NRP2	206289322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-OE-A75W-01A-12D-A32N-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	0	0	0	6	520	0	95	0	5.946687e-04	0	3	0	95	2		0	0	0	0	0	2	1	0.964106	6	515	0	91	2		0	0	0	0	95	2	-2.773521	1	1	121412	1	29	1	1	2	3	2.168169	0	0.570000	1.770000	0.572437	0.040000	0	0.090000	0.040000	0.055967	0.040000	0	2.000000e-02	7.000000e-02
CXCR1	3577	broad.mit.edu	37	2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	rs56030518		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1			13				Ketoprofen(DB01009)	GTTGTTGCGGCGCTCACAGCT	0.572000																								0							SO:0001583	missense			ENST00000295683.2	1	1	hg19	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.25	2.778988	0.49891	0.0	3.49E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.71934	-0.61	4.89	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.392430	0.28482	N	0.015186	T	0.65923	0.2738	M	0.62154	1.92	0.31690	N	0.641996	P	0.40083	0.702	B	0.37780	0.258	T	0.72276	-0.4341	10	0.33940	T	0.23	.	13.1692	0.59589	0.1603:0.8397:0.0:0.0	rs56030518	279	P25024	CXCR1_HUMAN	H	279;223	ENSP00000295683:R279H	ENSP00000295683:R279H	R	-	2	0	CXCR1	218737344	0.005000	0.15991	0.967000	0.41034	0.149000	0.21700	1.489000	0.35562	2.406000	0.81754	0.561000	0.74099	CGC		TCGA-OE-A75W-01A-12D-A32N-08	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	1	0	1	116	312	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	116	308	0	90	2		0	0	0	0	90	2	-3.017840	1	1	121412	23	46	1	1	2	3	2.168169	0	0.570000	1.770000	0.572437	0.950000	8.000000e-01	1.000000	1.000000	0.944854	0.950000	1	8.700000e-01	1
LRRTM1	347730	broad.mit.edu	37	2	80529763	80529763	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000295057.3	-	2	1838	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1			63					CGCCGTCCGCGAGCGTGGTGG	0.716000										HNSCC(69;0.2)														0							SO:0001819	synonymous_variant			ENST00000295057.3	0	1	hg19	CCDS1966.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	0	0	0	7	225	0	39	0	9.613978e-02	0	15	0	39	2		0	0	0	0	0	2	1	0.980165	7	222	0	39	2		0	0	0	0	39	2	-8.803212	1	1	0	0		1	0	0	0	2.138019	0	0.570000	1.770000	0.570000	0.100000	4.000000e-02	0.210000	0.100000	0.119552	0.100000	0	7.000000e-02	1.600000e-01
NCAPH	23397	broad.mit.edu	37	2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000240423.4	+	2	243	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	NCAPH_ENST00000455200.1_Missense_Mutation_p.R56Q|NCAPH_ENST00000427946.1_Intron	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H			28		Ovarian(717;0.0221)			CGGCTGCAGCGGAGGCGCTCG	0.592000																								0							SO:0001583	missense			ENST00000240423.4	1	1	hg19	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639751	0.87760	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.66	4.78	0.61160	.	0.106857	0.64402	N	0.000006	T	0.71467	0.3343	M	0.80183	2.485	0.48975	D	0.999732	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.66056	D	0.02	-21.3725	10.5775	0.45235	0.0891:0.0:0.9109:0.0	.	43;56;56;67	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Q	67;56;67;56	ENSP00000240423:R67Q;ENSP00000405237:R56Q;ENSP00000401227:R67Q;ENSP00000407308:R56Q	ENSP00000240423:R67Q	R	+	2	0	NCAPH	96371287	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.515000	0.90548	1.400000	0.46741	0.650000	0.86243	CGG		TCGA-OE-A75W-01A-12D-A32N-08	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	1	155	526	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1.000000	155	514	0	131	2		0	0	0	0	133	2	-4.469609	1	1	121412	1	33	1	1	2	3	2.171444	0	0.570000	1.770000	0.572437	0.790000	6.900000e-01	0.930000	0.800000	0.807003	0.790000	0	7.400000e-01	8.600000e-01
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000461057.1_Missense_Mutation_p.R756W|GPR156_ENST00000315843.3_Missense_Mutation_p.R760W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156			32					CAGTAGGGCCGGTGGCAGCGG	0.572000																								0							SO:0001583	missense			ENST00000464295.1	0	1	hg19	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874542	0.72180	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.63417	-0.04;-0.04;-0.0	4.97	2.03	0.26663	.	0.000000	0.64402	D	0.000008	T	0.67069	0.2854	L	0.34521	1.04	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62473	-0.6847	9	.	.	.	-23.5143	13.1849	0.59675	0.0:0.0:0.4344:0.5656	.	756;760	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	760;760;756	ENSP00000417261:R760W;ENSP00000324553:R760W;ENSP00000418758:R756W	.	R	-	1	2	GPR156	121368736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.382000	0.34374	0.318000	0.23185	0.561000	0.74099	CGG		TCGA-OE-A75W-01A-12D-A32N-08	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	0	0	0	7	824	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	0.979777	6	815	0	151	2		0	0	0	0	152	2	-1.898680	0	1	121412	7	43	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.020000	0	0.060000	0.030000	0.031722	0.020000	0	1.000000e-02	5.000000e-02
IQCB1	9657	broad.mit.edu	37	3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1			30					TCTTTCCCTTCTGCCTCCTTC	0.517000																								0							SO:0001583	missense			ENST00000310864.6	0	1	hg19	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312378	0.23908	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.78595	-1.19;-1.19	5.34	3.4	0.38934	.	0.261904	0.42420	N	0.000712	T	0.58308	0.2113	N	0.25647	0.755	0.28325	N	0.922048	B;P	0.36837	0.002;0.571	B;B	0.36608	0.003;0.229	T	0.51268	-0.8727	10	0.08381	T	0.77	-4.0249	6.4099	0.21686	0.0:0.782:0.0:0.218	.	531;398	Q15051;Q15051-2	IQCB1_HUMAN;.	K	531;398	ENSP00000311505:E531K;ENSP00000323756:E398K	ENSP00000311505:E531K	E	-	1	0	IQCB1	122972088	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	1.277000	0.33167	1.482000	0.48325	0.650000	0.86243	GAA		TCGA-OE-A75W-01A-12D-A32N-08	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	0	0	0	14	715	0	146	1	4.020814e-01	3	65	0	146	2		0	0	0	0	0	2	1	0.999739	14	709	0	145	2		0	0	0	0	146	2	-2.737766	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.060000	2.000000e-02	0.110000	0.060000	0.069054	0.060000	0	4.000000e-02	9.000000e-02
MUC13	56667	broad.mit.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	p.R324W(1)		18					TAATCACACCGAAGGGTCACT	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311075.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG		TCGA-OE-A75W-01A-12D-A32N-08	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	0	0	1	8	305	0	48	1	7.156202e-01	11	84	0	48	2		0	0	0	0	0	2	1	0.989189	6	304	0	48	2		0	0	0	0	48	2	-2.957200	1	1	121412	1	28	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.080000	3.000000e-02	0.160000	0.090000	0.095998	0.080000	0	5.000000e-02	1.300000e-01
CAND2	23066	broad.mit.edu	37	3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	p.R534W(1)		37					TGAGATCACCCGGCTGCCCGC	0.632000													GBM(43;676 868 1633 6395 37496)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000456430.2	0	1	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386485	0.61956	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.068282	0.56097	D	0.000033	D	0.87884	0.6290	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.91089	0.4905	10	0.87932	D	0	-35.2501	15.7833	0.78281	0.0:1.0:0.0:0.0	.	627;534	O75155;O75155-2	CAND2_HUMAN;.	W	534;627	ENSP00000295989:R534W;ENSP00000387641:R627W	ENSP00000295989:R534W	R	+	1	2	CAND2	12833310	0.317000	0.24589	1.000000	0.80357	0.837000	0.47467	0.913000	0.28611	2.395000	0.81488	0.561000	0.74099	CGG		TCGA-OE-A75W-01A-12D-A32N-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	0	0	12	712	1	179		0	0	0	1	179	2		0	0	0	0	0	2	0	0.337077	12	704	1	176	15		0	0	0	1	179	2	-2.184270	0	1	121052	1	33	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.050000	2.000000e-02	0.100000	0.060000	0.060231	0.050000	0	3.000000e-02	8.000000e-02
CEP63	80254	broad.mit.edu	37	3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa			27					ATGGAATAAAGACTGAGCACT	0.423000																								0							SO:0001583	missense			ENST00000337090.3	1	1	hg19	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944889	0.34283	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18338	2.22;2.22	4.77	3.89	0.44902	.	0.724271	0.12624	N	0.452796	T	0.17238	0.0414	L	0.44542	1.39	0.32265	N	0.569604	P	0.44429	0.835	P	0.44990	0.466	T	0.02339	-1.1174	10	0.25751	T	0.34	-11.6316	8.2011	0.31426	0.1056:0.0:0.8944:0.0	.	570	Q96MT8	CEP63_HUMAN	N	570	ENSP00000336524:K570N;ENSP00000426129:K570N	ENSP00000336524:K570N	K	+	3	2	CEP63	135760718	1.000000	0.71417	0.880000	0.34516	0.885000	0.51271	1.319000	0.33655	2.611000	0.88343	0.650000	0.86243	AAG		TCGA-OE-A75W-01A-12D-A32N-08	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	1	0	1	166	397	0	93	0	7.938119e-01	1	8	0	93	2		0	0	0	0	0	2	1	1.000000	165	391	0	93	2		0	0	0	0	93	2	-20.000000	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.980000	8.600000e-01	1.000000	1.000000	0.971125	0.980000	1	9.200000e-01	1
CEP63	80254	broad.mit.edu	37	3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa			27					GGAATAAAGACTGAGCACTAC	0.428000																								0							SO:0001583	missense			ENST00000337090.3	1	1	hg19	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353755	0.11182	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18174	2.23;2.23	4.77	2.93	0.34026	.	1.163120	0.06370	N	0.713479	T	0.16769	0.0403	L	0.47716	1.5	0.25605	N	0.986555	B	0.06786	0.001	B	0.09377	0.004	T	0.29549	-1.0008	10	0.35671	T	0.21	-0.0211	6.73	0.23379	0.0:0.7252:0.1782:0.0966	.	571	Q96MT8	CEP63_HUMAN	I	571	ENSP00000336524:T571I;ENSP00000426129:T571I	ENSP00000336524:T571I	T	+	2	0	CEP63	135760720	1.000000	0.71417	0.646000	0.29493	0.835000	0.47333	0.453000	0.21811	0.677000	0.31305	-0.143000	0.13931	ACT		TCGA-OE-A75W-01A-12D-A32N-08	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	1	0	1	168	403	0	99	0	8.403252e-01	1	9	0	99	2		0	0	0	0	0	2	1	1.000000	167	397	0	99	2		0	0	0	0	99	2	-20.000000	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.980000	8.600000e-01	1.000000	1.000000	0.970160	0.980000	1	9.200000e-01	1
SOX14	8403	broad.mit.edu	37	3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14			14					ATCAGCAAACGCCTAGGTGCC	0.597000																								0							SO:0001583	missense			ENST00000306087.1	1	1	hg19	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711362	0.89112	.	.	ENSG00000168875	ENST00000306087	D	0.98060	-4.69	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.98343	0.9450	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.99338	1.0911	10	0.87932	D	0	.	18.2699	0.90064	0.0:0.0:1.0:0.0	.	41	O95416	SOX14_HUMAN	H	41	ENSP00000305343:R41H	ENSP00000305343:R41H	R	+	2	0	SOX14	138966438	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.597000	0.98273	2.653000	0.90120	0.511000	0.50034	CGC		TCGA-OE-A75W-01A-12D-A32N-08	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	1	0	0	15	208	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.999877	15	205	0	45	2		0	0	0	0	46	2	-3.318794	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.220000	1.300000e-01	0.350000	0.220000	0.238689	0.220000	0	1.700000e-01	2.900000e-01
SLC25A36	55186	broad.mit.edu	37	3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000324194.6	+	6	679	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36			6					GTATCAGACAGATGGACTAAA	0.353000																								0							SO:0001583	missense			ENST00000324194.6	1	1	hg19	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347924	0.82022	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78816	-1.21;-1.21;-1.21	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.042314	0.85682	D	0.000000	D	0.83718	0.5315	L	0.46157	1.445	0.80722	D	1	B;B;D	0.55800	0.417;0.215;0.973	B;B;P	0.60117	0.213;0.135;0.869	D	0.84345	0.0529	10	0.87932	D	0	-25.1645	18.015	0.89236	0.0:0.0:1.0:0.0	.	145;171;171	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	N	171;171;145	ENSP00000401938:D171N;ENSP00000320688:D171N;ENSP00000391521:D145N	ENSP00000320688:D171N	D	+	1	0	SLC25A36	142175306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAT		TCGA-OE-A75W-01A-12D-A32N-08	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	1	0	1	77	198	0	38	1	3.164734e-01	3	1	0	38	2		0	0	0	0	0	2	1	1.000000	76	196	0	37	2		0	0	0	0	38	2	-20.000000	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.930000	7.600000e-01	1.000000	1.000000	0.930055	0.930000	1	8.400000e-01	1
P2RY1	5028	broad.mit.edu	37	3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1			23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		CTTTCATGTGAACCTCTATGG	0.507000																								0							SO:0001583	missense			ENST00000305097.3	0	1	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675868	0.88445	.	.	ENSG00000169860	ENST00000305097	T	0.38560	1.13	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79165	-0.1916	10	0.87932	D	0	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	134	P47900	P2RY1_HUMAN	Y	134	ENSP00000304767:N134Y	ENSP00000304767:N134Y	N	+	1	0	P2RY1	154036661	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	AAC		TCGA-OE-A75W-01A-12D-A32N-08	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	0	0	0	5	343	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.937974	5	343	0	78	2		0	0	0	0	78	2	-5.871927	1	0	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.040000	1.000000e-02	0.110000	0.050000	0.057592	0.040000	0	2.000000e-02	8.000000e-02
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000468789.1_Silent_p.T73T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					ACTCCTGGATCGTGTGTATCT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000464456.1	1	1	hg19	CCDS54669.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	203	536	0	139	1	1.855623e-01	2	1	0	139	2		0	0	0	0	0	2	1	1.000000	201	534	0	138	2		0	0	0	0	139	2	-20.000000	1	1	121412	4	43	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.920000	8.100000e-01	1.000000	1.000000	0.923864	0.920000	1	8.600000e-01	9.800000e-01
FXR1	8087	broad.mit.edu	37	3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1			26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		AGTGAGAATTGAAGGGGACAA	0.313000																								0							SO:0001583	missense			ENST00000357559.4	0	1	hg19	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985897	0.93044	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.44	5.44	0.79542	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.974;0.99;0.993	T	0.66372	-0.5940	10	0.87932	D	0	-16.7507	19.6264	0.95679	0.0:0.0:1.0:0.0	.	306;270;234;234;319;319	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Q	319;234;270;234;319;306	ENSP00000350170:E319Q;ENSP00000307633:E234Q;ENSP00000420643:E270Q;ENSP00000420515:E234Q;ENSP00000388828:E319Q;ENSP00000418097:E306Q	ENSP00000307633:E234Q	E	+	1	0	FXR1	182158375	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.813000	0.99286	2.717000	0.92951	0.655000	0.94253	GAA		TCGA-OE-A75W-01A-12D-A32N-08	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5	0	0	0	7	291	0	50	0	4.118954e-01	1	53	0	50	2		0	0	0	0	0	2	1	0.979241	6	285	0	49	2		0	0	0	0	50	2	-2.860373	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.080000	3.000000e-02	0.160000	0.080000	0.089589	0.080000	0	5.000000e-02	1.200000e-01
EIF4G1	1981	broad.mit.edu	37	3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000346169.2	+	8	873	c.602G>A	c.(601-603)cGc>cAc	p.R201H	EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R201H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TCTGGGGCCCGCACTGCCTCC	0.547000																								0							SO:0001583	missense			ENST00000346169.2	0	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213090	0.79352	0.0	4.65E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	1.11;1.11;1.11;0.19;1.11;1.11;1.11;1.11;3.39;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.95;3.37;0.07;3.31;-0.21;0.78;3.32	5.08	4.21	0.49690	.	0.062143	0.64402	N	0.000015	T	0.53626	0.1808	L	0.32530	0.975	0.53688	D	0.999978	B;B;B;B	0.19073	0.033;0.033;0.033;0.033	B;B;B;B	0.15052	0.012;0.012;0.012;0.007	T	0.47749	-0.9093	10	0.20519	T	0.43	-3.7867	13.5567	0.61763	0.0749:0.0:0.9251:0.0	rs34838305	208;201;201;208	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	201;161;114;5;201;208;208;142;37;208;114;201;201;208;151;161;37;37;5;5;5;5;5	ENSP00000316879:R201H;ENSP00000391935:R161H;ENSP00000376320:R114H;ENSP00000407244:R5H;ENSP00000391412:R201H;ENSP00000413159:R208H;ENSP00000371767:R208H;ENSP00000403269:R142H;ENSP00000317600:R37H;ENSP00000338020:R208H;ENSP00000407682:R114H;ENSP00000343450:R201H;ENSP00000323737:R201H;ENSP00000416255:R208H;ENSP00000415943:R151H;ENSP00000395974:R161H;ENSP00000398145:R37H;ENSP00000399858:R37H;ENSP00000411707:R5H;ENSP00000411826:R5H;ENSP00000409545:R5H;ENSP00000399969:R5H;ENSP00000404754:R5H	ENSP00000323737:R201H	R	+	2	0	EIF4G1	185521176	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.439000	0.80444	1.377000	0.46286	0.655000	0.94253	CGC		TCGA-OE-A75W-01A-12D-A32N-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0	6	361	0	74	0	3.921854e-02	0	16	0	74	2		0	0	0	0	0	2	1	0.962842	6	353	0	74	2		0	0	0	0	74	2	-2.552329	1	1	121412	21	46	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.050000	1.000000e-02	0.110000	0.060000	0.063790	0.050000	0	3.000000e-02	9.000000e-02
SENP5	205564	broad.mit.edu	37	3	196612958	196612958	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.R302R	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5			32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CTTCTTGTCGGCATCAGCCGT	0.532000													Ovarian(47;891 1095 11174 13858 51271)											0							SO:0001819	synonymous_variant			ENST00000323460.5	0	1	hg19	CCDS3322.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	0	0	0	5	466	0	79	0	1.873311e-04	0	2	0	79	2		0	0	0	0	0	2	0	0.002708	6	460	1	78	19		0	0	0	0	79	2	-2.383246	0	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.030000	0	0.080000	0.040000	0.042447	0.030000	0	1.000000e-02	6.000000e-02
SCN5A	6331	broad.mit.edu	37	3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000333535.4	-	28	5944	c.5795C>T	c.(5794-5796)gCg>gTg	p.A1932V	SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1932V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGCTGCCCGCCTGCTGACG	0.622000																								0							SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939513	0.02322	2.42E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95949	-3.77;-3.8;-3.8;-3.81;-3.8;-3.77;-3.8;-3.86;-3.81;-3.81	4.86	3.08	0.35506	.	0.586375	0.16484	N	0.212412	D	0.90157	0.6924	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.001;0.0;0.001;0.002;0.001	B;B;B;B;B;B	0.12156	0.001;0.001;0.002;0.002;0.007;0.004	T	0.82226	-0.0562	10	0.52906	T	0.07	.	10.9373	0.47253	0.1517:0.0:0.8483:0.0	.	1878;1899;1914;1932;1931;1932	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1914;1931;1932;1878;1931;1914;1932;1899;1878;1878	ENSP00000398962:A1914V;ENSP00000398266:A1931V;ENSP00000410257:A1932V;ENSP00000388797:A1878V;ENSP00000397915:A1931V;ENSP00000416634:A1914V;ENSP00000328968:A1932V;ENSP00000399524:A1899V;ENSP00000403355:A1878V;ENSP00000413996:A1878V	ENSP00000328968:A1932V	A	-	2	0	SCN5A	38567072	0.004000	0.15560	0.104000	0.21259	0.085000	0.17905	1.632000	0.37102	0.662000	0.31006	-0.218000	0.12543	GCG		TCGA-OE-A75W-01A-12D-A32N-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	22	188	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.999999	22	183	0	46	2		0	0	0	0	46	2	-20.000000	1	1	121024	8	37	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.350000	2.200000e-01	0.500000	0.350000	0.364075	0.350000	0	2.800000e-01	4.300000e-01
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					CTGTTCAGCCGCATTTGGGTC	0.498000																								0							SO:0001583	missense			ENST00000296137.2	0	1	hg19	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		TCGA-OE-A75W-01A-12D-A32N-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	0	0	7	780	0	154	0	4.860049e-03	0	10	0	154	2		0	0	0	0	0	2	1	0.979168	7	764	0	152	2		0	0	0	0	154	2	-1.630981	0	1	121412	4	45	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.020000	0	0.060000	0.040000	0.033735	0.020000	0	1.000000e-02	5.000000e-02
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000479054.1	+	18	3474	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000345716.4_Silent_p.V1134V			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	TCCGGCACGTCGCCAGCCTGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000479054.1	1	1	hg19	CCDS33767.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1	70	452	0	141	1	9.980640e-01	11	51	0	141	2		0	0	0	0	0	2	1	1.000000	68	445	0	140	2		0	0	0	0	141	2	-3.221905	1	1	121276	7	40	1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.440000	3.500000e-01	0.550000	0.450000	0.455748	0.440000	0	3.900000e-01	5.000000e-01
NSUN3	63899	broad.mit.edu	37	3	93783283	93783283	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	DHFRL1_ENST00000481631.1_5'Flank|DHFRL1_ENST00000314636.2_5'Flank|DHFRL1_ENST00000394221.2_5'Flank|NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3			18					CGTCATAGCTGAAAGCAAAAT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000314622.4	1	1	hg19	CCDS2927.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	1	0	0	7	186	0	24	0	6.486699e-02	1	9	0	24	2		0	0	0	0	0	2	1	0.980841	7	185	0	24	2		0	0	0	0	24	2	-9.031901	1	1	0	0		1	0	0	0	2.052927	0	0.570000	1.770000	0.552130	0.120000	5.000000e-02	0.240000	0.120000	0.137628	0.120000	0	8.000000e-02	1.800000e-01
ZNF330	27309	broad.mit.edu	37	4	142150724	142150724	+	Splice_Site	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330			14	all_hematologic(180;0.162)				CTTGGTTACAGGGTGCAATAT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000262990.4	0	1	hg19	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778159	0.70107	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF330	142370174	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		TCGA-OE-A75W-01A-12D-A32N-08	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	0	0	0	7	749	0	180		0	0	0	0	180	2		0	0	0	0	0	2	1	0.978809	7	730	0	179	2		0	0	0	0	180	2	-1.838574	0	1	0	0		1	0	1	1	1.635240	1	0.570000	1.770000	0.410353	0.020000	0	0.050000	0.020000	0.026992	0.020000	0	1.000000e-02	4.000000e-02
MND1	84057	broad.mit.edu	37	4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000504860.1	+	5	458	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	MND1_ENST00000240488.3_Nonsense_Mutation_p.E154*					meiotic nuclear divisions 1 homolog (S. cerevisiae)			3	all_hematologic(180;0.093)				AGTTGTGGAAGAAATACGTAA	0.373000																								0							SO:0001587	stop_gained			ENST00000504860.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.67	3.673305	0.67928	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	5.44	0.79542	.	0.090339	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-33.0793	16.5451	0.84443	0.0:0.0:1.0:0.0	.	.	.	.	X	154;139	.	ENSP00000240488:E154X	E	+	1	0	MND1	154537929	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.502000	0.73695	2.690000	0.91761	0.555000	0.69702	GAA		TCGA-OE-A75W-01A-12D-A32N-08	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	1	0	0	11	48	0	16	1	9.424177e-01	5	20	0	16	2		0	0	0	0	0	2	1	0.998868	11	48	0	16	2		0	0	0	0	16	2	-19.951880	1	1	0	0		1	0	1	1	1.635240	1	0.570000	1.770000	0.410353	0.470000	2.600000e-01	0.740000	0.470000	0.491266	0.470000	0	3.600000e-01	6.100000e-01
FBXL5	26234	broad.mit.edu	37	4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5			13					CATTTTGCTGGAAACTGCAGA	0.338000																								0							SO:0001583	missense			ENST00000341285.3	0	1	hg19	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.103499	.|0.64402	.|D	.|0.000002	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.13407	.|0.009;0.004	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.87932	.|D	.|0	-9.4228|-9.4228	17.5156|17.5156	0.87772|0.87772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;344	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	L|C	264|344;327;218	.|ENSP00000344866:S344C;ENSP00000408679:S327C;ENSP00000371795:S218C	.|ENSP00000344866:S344C	F|S	-|-	3|2	2|0	FBXL5|FBXL5	15238616|15238616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.856000|8.856000	0.92245|0.92245	2.570000|2.570000	0.86706|0.86706	0.460000|0.460000	0.39030|0.39030	TTC|TCC		TCGA-OE-A75W-01A-12D-A32N-08	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2	0	0	0	5	211	0	38	0	3.267467e-02	0	10	0	38	2		0	0	0	0	0	2	1	0.938267	5	211	0	38	2		0	0	0	0	38	2	-6.545644	1	1	0	0		1	1	2	3	2.166255	0	0.570000	1.770000	0.572437	0.080000	2.000000e-02	0.200000	0.080000	0.105636	0.080000	0	5.000000e-02	1.400000e-01
FSTL5	56884	broad.mit.edu	37	4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5			91	all_hematologic(180;0.24)				TCACTATTGAACCCAATGACT	0.488000																								0							SO:0001583	missense			ENST00000306100.5	1	1	hg19	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422309	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71817	-0.58;-0.56;-0.6;-0.56	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);	0.397737	0.31134	N	0.008186	T	0.48484	0.1502	N	0.08118	0	0.28959	N	0.889968	B;B;B	0.17268	0.021;0.007;0.01	B;B;B	0.20184	0.028;0.007;0.019	T	0.38112	-0.9676	10	0.22706	T	0.39	.	10.4916	0.44754	0.9243:0.0:0.0757:0.0	.	679;688;689	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	689;688;679;688	ENSP00000305334:F689I;ENSP00000368462:F688I;ENSP00000389270:F679I;ENSP00000440409:F688I	ENSP00000305334:F689I	F	-	1	0	FSTL5	162526828	1.000000	0.71417	0.663000	0.29738	0.888000	0.51559	3.708000	0.54845	0.952000	0.37798	0.533000	0.62120	TTC		TCGA-OE-A75W-01A-12D-A32N-08	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	1	0	1	76	146	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	76	144	0	53	2		0	0	0	0	53	2	-20.000000	1	1	0	0		1	0	1	1	1.635240	1	0.570000	1.770000	0.410353	0.860000	7.100000e-01	1.000000	1.000000	0.869617	0.860000	1	7.800000e-01	9.500000e-01
HGFAC	3083	broad.mit.edu	37	4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator			22					GCCTTCACCGGCAAGGACTGC	0.687000																								0							SO:0001583	missense			ENST00000382774.3	0	1	hg19	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169872	0.38315	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99105	-5.43;-5.43	3.94	3.94	0.45596	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.90650	3.135	0.45239	D	0.998246	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98698	1.0699	10	0.87932	D	0	.	13.5073	0.61491	0.0:0.0:1.0:0.0	.	194;194	D6RAR4;Q04756	.;HGFA_HUMAN	D	194	ENSP00000372224:G194D;ENSP00000421801:G194D	ENSP00000372224:G194D	G	+	2	0	HGFAC	3415669	0.004000	0.15560	0.189000	0.23252	0.168000	0.22595	0.771000	0.26633	2.023000	0.59567	0.313000	0.20887	GGC		TCGA-OE-A75W-01A-12D-A32N-08	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	0	0	0	5	113	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.934659	3	113	0	32	2		0	0	0	0	32	2	-8.403799	1	0	0	0		1	1	2	3	2.166255	0	0.570000	1.770000	0.572437	0.160000	5.000000e-02	0.360000	0.150000	0.183408	0.160000	0	1.000000e-01	2.500000e-01
FRAS1	80144	broad.mit.edu	37	4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					TATCCACGATGACTCCATGTT	0.448000																								0							SO:0001583	missense			ENST00000264895.6	0	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.113120|4.113120	0.77210|0.77210	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.57107|.	0.42|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86661|.	0.5986|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.89622|.	0.3849|.	10|.	0.87932|.	D|.	0|.	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2997|.	E9PHH6|.	.|.	Y|L	2997|1225	ENSP00000264895:D2997Y|.	ENSP00000264895:D2997Y|.	D|X	+|+	1|2	0|2	FRAS1|FRAS1	79637013|79637013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	9.594000|9.594000	0.98254|0.98254	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAC|TGA		TCGA-OE-A75W-01A-12D-A32N-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	13	793	0	106	0	1.570166e-02	0	11	0	106	2		0	0	0	0	0	2	1	0.999500	13	785	0	105	2		0	0	0	0	106	2	-2.645963	1	1	0	0		1	1	2	3	2.648177	1	0.570000	1.770000	0.648204	0.070000	3.000000e-02	1.000000	0.080000	0.225336	0.070000	0	4.000000e-02	1
DGKQ	1609	broad.mit.edu	37	4	954958	954958	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa			9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		GGCAATCCGGATTCCGGAGCG	0.726000													Esophageal Squamous(17;537 645 4447 26373)											0							SO:0001583	missense			ENST00000273814.3	1	1	hg19	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.63|17.63	3.437655|3.437655	0.62955|0.62955	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814;ENST00000515182|ENST00000509465	T;T|.	0.47177|.	0.85;0.85|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Diacylglycerol kinase, accessory domain (2);|.	0.049071|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39633|0.39633	1.23|1.23	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.77557|.	0.967;0.99|.	T|T	0.55062|0.55062	-0.8199|-0.8199	10|5	0.44086|.	T|.	0.13|.	.|.	13.1628|13.1628	0.59554|0.59554	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	869;869|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	T|P	869;84|803	ENSP00000273814:I869T;ENSP00000421756:I84T|.	ENSP00000273814:I869T|.	I|S	-|-	2|1	0|0	DGKQ|DGKQ	944958|944958	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	5.430000|5.430000	0.66501|0.66501	2.008000|2.008000	0.58898|0.58898	0.454000|0.454000	0.30748|0.30748	ATC|TCC		TCGA-OE-A75W-01A-12D-A32N-08	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	1	0	0	35	156	0	39	1	8.806734e-01	4	15	0	39	2		0	0	0	0	0	2	1	1.000000	34	155	0	38	2		0	0	0	0	39	2	-20.000000	1	1	0	0		1	1	2	3	2.166255	0	0.570000	1.770000	0.572437	0.640000	4.600000e-01	0.880000	0.650000	0.659005	0.640000	0	5.500000e-01	7.600000e-01
FAM170A	340069	broad.mit.edu	37	5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A			24					TATCATGAAACGACGACAAAA	0.458000																								0							SO:0001587	stop_gained			ENST00000515256.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.799191	0.96960	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	.	.	.	4.24	3.36	0.38483	.	0.000000	0.42172	D	0.000747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6887	9.5633	0.39383	0.2093:0.7907:0.0:0.0	.	.	.	.	X	3	.	.	R	+	1	2	FAM170A	118993369	0.821000	0.29204	0.659000	0.29680	0.781000	0.44180	1.696000	0.37773	1.368000	0.46115	0.561000	0.74099	CGA		TCGA-OE-A75W-01A-12D-A32N-08	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	0	0	0	7	716	1	165		0	0	0	1	165	2		0	0	0	0	0	2	0	0.041855	10	703	1	165	16		0	0	0	1	165	2	-2.715705	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.030000	0	0.070000	0.040000	0.036150	0.030000	0	1.000000e-02	5.000000e-02
KIF20A	10112	broad.mit.edu	37	5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A			27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		AACAAGTCATCGATGGGCACA	0.498000																								0							SO:0001587	stop_gained			ENST00000394894.3	0	1	hg19	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306221	0.60305	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	.	.	.	4.88	2.9	0.33743	.	0.709223	0.11400	N	0.567885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0424	8.3654	0.32382	0.137:0.7029:0.0:0.1601	.	.	.	.	X	282;264	.	ENSP00000378356:R282X	R	+	1	2	KIF20A	137546768	0.005000	0.15991	0.518000	0.27811	0.964000	0.63967	1.560000	0.36331	1.264000	0.44198	0.655000	0.94253	CGA		TCGA-OE-A75W-01A-12D-A32N-08	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	1	0	1	69	222	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1.000000	69	221	0	54	2		0	0	0	0	54	2	-20.000000	1	1	121412	1	33	1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.770000	6.200000e-01	0.940000	0.780000	0.783264	0.770000	0	6.900000e-01	8.600000e-01
PCDHA13	56136	broad.mit.edu	37	5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000289272.2	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13			95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GACGCCGATTCGGGCTACAAT	0.697000													Melanoma(147;1739 1852 5500 27947 37288)											0							SO:0001583	missense			ENST00000289272.2	0	1	hg19	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230086	0.58777	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71643	0.3364	M	0.84773	2.715	0.38022	D	0.934879	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.966;0.991;0.99	T	0.80863	-0.1192	9	0.87932	D	0	.	16.3687	0.83346	0.0:1.0:0.0:0.0	.	601;601;601	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	601	ENSP00000386821:S601L;ENSP00000289272:S601L	ENSP00000289272:S601L	S	+	2	0	PCDHA13	140243839	0.000000	0.05858	0.966000	0.40874	0.123000	0.20343	0.579000	0.23788	2.144000	0.66660	0.655000	0.94253	TCG		TCGA-OE-A75W-01A-12D-A32N-08	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	0	0	0	6	658	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	0.964261	7	652	0	156	2		0	0	0	0	158	2	-2.591305	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.020000	0	0.060000	0.030000	0.034162	0.020000	0	1.000000e-02	5.000000e-02
PCDHB6	56130	broad.mit.edu	37	5	140531689	140531689	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6			84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GCGTGTGGGCGCACAATGGCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000231136.1	0	1	hg19	CCDS4248.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	0	0	0	5	346	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	0.902817	5	288	0	141	2		0	0	0	0	97	2	-2.722834	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.040000	1.000000e-02	0.100000	0.050000	0.055732	0.040000	0	2.000000e-02	8.000000e-02
PCDHB8	56128	broad.mit.edu	37	5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TAATGCCCCTGAATTTGAGCA	0.502000																								0							SO:0001583	missense			ENST00000239444.2	1	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	12.50	1.957802	0.34565	.	.	ENSG00000120322	ENST00000239444	T	0.61510	0.1	4.25	1.37	0.22104	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.36054	0.0953	N	0.16266	0.395	0.23126	N	0.998252	B	0.26876	0.162	B	0.27608	0.081	T	0.21211	-1.0252	9	0.25106	T	0.35	.	5.6828	0.17786	0.26:0.1488:0.5912:0.0	.	242	Q9UN66	PCDB8_HUMAN	K	242	ENSP00000239444:E242K	ENSP00000239444:E242K	E	+	1	0	PCDHB8	140538523	0.000000	0.05858	0.995000	0.50966	0.983000	0.72400	0.137000	0.15995	-0.038000	0.13624	0.585000	0.79938	GAA		TCGA-OE-A75W-01A-12D-A32N-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	1	0	1	218	1305	0	282		0	0	0	0	282	2	0	0	0	1	0	0	2	1	1.000000	217	1291	0	282	2		0	0	0	0	282	2	-20.000000	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.460000	4.000000e-01	0.530000	0.470000	0.472024	0.460000	0	4.300000e-01	5.000000e-01
CLINT1	9685	broad.mit.edu	37	5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000411809.2	-	7	1060	c.856G>C	c.(856-858)Gat>Cat	p.D286H	CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H|CLINT1_ENST00000523094.1_Missense_Mutation_p.D268H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1			21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GCTCCAAGATCAATGGTTTTG	0.483000													Colon(22;427 587 2170 6147 14291)											0							SO:0001583	missense			ENST00000411809.2	0	1	hg19	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.742679|4.742679	0.89573|0.89573	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.61040|.	0.14;0.14;0.25;0.14;0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75591|.	0.3870|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.73238|.	-0.4046|.	10|.	0.72032|.	D|.	0.01|.	-18.413|-18.413	19.6818|19.6818	0.95967|0.95967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;286|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	268;268;286;268;286|2	ENSP00000429345:D268H;ENSP00000433419:D268H;ENSP00000388340:D286H;ENSP00000296951:D268H;ENSP00000429824:D286H|.	ENSP00000296951:D268H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157165538|157165538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	GAT|TGA		TCGA-OE-A75W-01A-12D-A32N-08	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	0	0	0	7	323	0	70	0	2.500796e-02	1	9	0	70	2		0	0	0	0	0	2	1	0.978667	7	313	0	68	2		0	0	0	0	70	2	-3.075884	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.070000	2.000000e-02	0.140000	0.070000	0.079046	0.070000	0	4.000000e-02	1.100000e-01
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GTTGCTGCATCGCACCACTGT	0.642000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001583	missense			ENST00000519560.1	0	1	hg19	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	36	5.620461	0.96660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95918	-3.85;-3.85;-3.85	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.167150	0.53938	D	0.000050	D	0.96442	0.8839	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97301	0.9931	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	737	O75094	SLIT3_HUMAN	Q	737	ENSP00000430333:R737Q;ENSP00000332164:R737Q;ENSP00000384890:R737Q	ENSP00000332164:R737Q	R	-	2	0	SLIT3	168107945	1.000000	0.71417	0.954000	0.39281	0.894000	0.52154	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	CGA		TCGA-OE-A75W-01A-12D-A32N-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	0	0	0	7	470	0	122	0	0	0	1	0	122	2		0	0	0	0	0	2	1	0.980171	7	466	0	121	2		0	0	0	0	122	2	-3.085984	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.040000	1.000000e-02	0.100000	0.050000	0.054862	0.040000	0	2.000000e-02	7.000000e-02
CDHR2	54825	broad.mit.edu	37	5	176008451	176008451	+	Silent	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000506348.1_Silent_p.L642L|CDHR2_ENST00000261944.5_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					CAGGGCTCCTCAGAAACCTGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000510636.1	0	1	hg19	CCDS34297.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	0	0	4	257	0	68	1	2.275312e-01	2	45	0	68	2		0	0	0	0	0	2	1	0.887421	4	253	0	67	2		0	0	0	0	68	2	-5.167245	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.050000	1.000000e-02	0.120000	0.050000	0.062257	0.050000	0	2.000000e-02	9.000000e-02
F12	2161	broad.mit.edu	37	5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)			12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Ethanolamine Oleate(DB06689)	GGGCATGAGTGGGACATGAAG	0.711000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	ENST00000253496.3	1	1	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837406	0.16891	.	.	ENSG00000131187	ENST00000253496	D	0.89050	-2.46	4.4	-4.43	0.03568	.	3.436950	0.00947	N	0.002906	T	0.72574	0.3477	N	0.05124	-0.11	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.67360	-0.5690	10	0.10377	T	0.69	.	5.3148	0.15850	0.486:0.0:0.374:0.14	.	314	P00748	FA12_HUMAN	L	314	ENSP00000253496:P314L	ENSP00000253496:P314L	P	-	2	0	F12	176763880	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.948000	0.03668	-1.191000	0.01696	CCA		TCGA-OE-A75W-01A-12D-A32N-08	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1	0	0	0	37	118	1	38	1	7.681109e-01	11	10	1	38	4		0	0	0	0	0	2	1	0.999885	37	117	1	38	14		0	0	0	1	38	2	-20.000000	1	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.780000	5.700000e-01	1.000000	1.000000	0.789892	0.780000	0	6.700000e-01	9.000000e-01
CLK4	57396	broad.mit.edu	37	5	178045614	178045614	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:178045614C>G	ENST00000316308.4	-	3	495	c.327G>C	c.(325-327)agG>agC	p.R109S	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4			21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GACTGCTTCTCCTGCTGCGGA	0.413000																								0							SO:0001583	missense			ENST00000316308.4	0	1	hg19	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845262	0.32606	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.68479	-0.33	5.72	5.72	0.89469	.	0.111533	0.64402	D	0.000001	T	0.48390	0.1497	L	0.31578	0.945	0.80722	D	1	B;P;B;B;B	0.39782	0.002;0.688;0.006;0.293;0.293	B;B;B;B;B	0.31442	0.006;0.13;0.006;0.039;0.039	T	0.47548	-0.9109	10	0.15066	T	0.55	.	13.0251	0.58810	0.0:0.8381:0.1619:0.0	.	109;109;109;109;109	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	S	109	ENSP00000316948:R109S	ENSP00000316948:R109S	R	-	3	2	CLK4	177978220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.230000	0.32612	2.700000	0.92200	0.563000	0.77884	AGG		TCGA-OE-A75W-01A-12D-A32N-08	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2	0	0	0	5	587	0	110	0	9.721886e-03	0	14	0	110	2		0	0	0	0	0	2	1	0.936942	5	584	0	108	2		0	0	0	0	110	2	-2.204181	0	1	0	0		1	0	1	1	2.009754	0	0.570000	1.770000	0.541235	0.020000	0	0.060000	0.030000	0.032673	0.020000	0	1.000000e-02	5.000000e-02
EGFLAM	133584	broad.mit.edu	37	5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000354891.3	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.K187M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains			85	all_lung(31;0.000385)				GATTTCGACAAGAAGTGGACC	0.448000													Colon(62;485 1295 3347 17454)											0							SO:0001583	missense			ENST00000354891.3	1	1	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479053	0.26511	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	0.571	0.17352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578369	0.20260	N	0.095883	T	0.31071	0.0785	N	0.17922	0.545	0.45515	D	0.998477	B;B	0.18461	0.014;0.028	B;B	0.13407	0.009;0.008	T	0.06770	-1.0808	10	0.45353	T	0.12	-9.2271	5.5891	0.17291	0.325:0.4351:0.2399:0.0	.	187;187	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	187	ENSP00000346964:K187M;ENSP00000313084:K187M	ENSP00000313084:K187M	K	+	2	0	EGFLAM	38406169	1.000000	0.71417	0.897000	0.35233	0.776000	0.43924	0.897000	0.28390	0.462000	0.27095	-0.429000	0.05907	AAG		TCGA-OE-A75W-01A-12D-A32N-08	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	1	0	1	88	230	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1.000000	86	227	0	54	2		0	0	0	0	55	2	-20.000000	1	1	0	0		1	0	2	2	2.176816	1	0.570000	1.770000	0.570000	0.970000	8.000000e-01	1.000000	1.000000	0.955181	0.970000	1	8.800000e-01	1
NNT	23530	broad.mit.edu	37	5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000512996.2_Missense_Mutation_p.D459G|NNT_ENST00000344920.4_Missense_Mutation_p.D590G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase			51	Lung NSC(6;2.58e-06)				CGTCCCACTGACCCCCCAGAA	0.463000																								0							SO:0001583	missense			ENST00000264663.5	0	1	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854509	0.91355	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96459	-4.02;-4.02;-3.87	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99285	1.0897	10	0.87932	D	0	-27.7305	15.8513	0.78934	1.0:0.0:0.0:0.0	.	590	Q13423	NNTM_HUMAN	G	105;590;590;459	ENSP00000264663:D590G;ENSP00000343873:D590G;ENSP00000426343:D459G	ENSP00000264663:D590G	D	+	2	0	NNT	43687649	1.000000	0.71417	0.816000	0.32577	0.983000	0.72400	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	GAC		TCGA-OE-A75W-01A-12D-A32N-08	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	0	0	0	9	954	1	154	0	3.137766e-03	0	8	1	154	2		0	0	0	0	0	2	0	0.018672	8	942	1	151	21		0	0	0	1	154	2	-1.787495	0	1	0	0		1	0	2	2	2.176816	1	0.570000	1.770000	0.570000	0.030000	0	1.000000	0.040000	0.136732	0.030000	0	1.000000e-02	6.000000e-02
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa			20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		GTCATGGATGCGGATGACGAG	0.612000																								0							SO:0001583	missense			ENST00000264935.5	0	1	hg19	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG		TCGA-OE-A75W-01A-12D-A32N-08	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	0	8	1020	0	228	0	2.269723e-03	0	8	0	228	2		0	0	0	0	0	2	1	0.989020	8	1013	0	227	2		0	0	0	0	228	2	-1.810234	0	1	121412	2	39	1	1	2	3	2.259955	0	0.570000	1.770000	0.589871	0.020000	0	1.000000	0.020000	0.158953	0.020000	0	1.000000e-02	6.000000e-02
RNF180	285671	broad.mit.edu	37	5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180			20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)			CCTGGAGGTGCGACCAACATA	0.453000																								0							SO:0001587	stop_gained			ENST00000389100.4	0	1	hg19	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987398	0.74589	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	.	.	.	6.08	3.21	0.36854	.	0.180087	0.38778	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0471	14.6552	0.68828	0.5204:0.4796:0.0:0.0	.	.	.	.	X	187	.	ENSP00000296615:R187X	R	+	1	2	RNF180	63545468	0.452000	0.25713	0.552000	0.28243	0.998000	0.95712	0.245000	0.18142	0.381000	0.24851	0.655000	0.94253	CGA		TCGA-OE-A75W-01A-12D-A32N-08	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	0	0	0	82	165	1	48	0	0	0	1	1	48	2		0	0	0	0	0	2	1	1.000000	82	163	1	48	17		0	0	0	1	48	2	-20.000000	1	1	121406	1	32	1	0	2	2	2.176816	1	0.570000	1.770000	0.570000	0.990000	9.600000e-01	1.000000	1.000000	0.998027	0.990000	1	9.900000e-01	1
HMGCR	3156	broad.mit.edu	37	5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F|HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase			20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTGGTGTATCTATTCGCCGA	0.408000																								0							SO:0001583	missense			ENST00000287936.4	0	1	hg19	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263447	0.59431	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44881	0.91;0.91;0.96	5.14	5.14	0.70334	Hydroxymethylglutaryl-CoA reductase, N-terminal (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.166783	0.56097	D	0.000035	T	0.46946	0.1419	L	0.52905	1.665	0.46678	D	0.999152	B;P;B	0.42296	0.215;0.775;0.215	B;B;B	0.43274	0.102;0.414;0.102	T	0.50524	-0.8818	10	0.59425	D	0.04	-18.4228	18.978	0.92745	0.0:1.0:0.0:0.0	.	493;493;493	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	F	493;424;493;493	ENSP00000426745:S493F;ENSP00000287936:S493F;ENSP00000340816:S493F	ENSP00000287936:S493F	S	+	2	0	HMGCR	74686193	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.270000	0.58896	2.570000	0.86706	0.467000	0.42956	TCT		TCGA-OE-A75W-01A-12D-A32N-08	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	0	0	0	6	326	0	42	0	9.557913e-03	0	7	0	42	2		0	0	0	0	0	2	1	0.964681	6	324	0	40	2		0	0	0	0	42	2	-2.618065	1	1	0	0		1	1	2	3	2.675887	1	0.570000	1.770000	0.665370	0.080000	2.000000e-02	0.170000	0.090000	0.094380	0.080000	0	5.000000e-02	1.300000e-01
GRIK2	2898	broad.mit.edu	37	6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAGTGCCAGCGTCGGTTAAA	0.398000																								0							SO:0001583	missense			ENST00000421544.1	1	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795302	0.90453	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12147	2.71;2.87;2.72	5.79	5.79	0.91817	.	0.050411	0.85682	D	0.000000	T	0.20941	0.0504	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.55260	0.772	T	0.00276	-1.1855	10	0.59425	D	0.04	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	873	Q13002	GRIK2_HUMAN	C	873;797;824	ENSP00000397026:R873C;ENSP00000358133:R797C;ENSP00000358130:R824C	ENSP00000358130:R824C	R	+	1	0	GRIK2	102622969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	CGT		TCGA-OE-A75W-01A-12D-A32N-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1	71	131	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	70	128	0	51	2		0	0	0	0	51	2	-20.000000	1	1	0	0		1	0	1	1	1.573763	1	0.570000	1.770000	0.398601	0.860000	7.100000e-01	0.990000	0.880000	0.866050	0.860000	1	7.800000e-01	9.400000e-01
KIAA0319	9856	broad.mit.edu	37	6	24580108	24580108	+	Silent	SNP	C	C	T	rs138756394	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:24580108C>T	ENST00000378214.3	-	8	1874	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	KIAA0319_ENST00000430948.2_Silent_p.T405T|KIAA0319_ENST00000535378.1_Silent_p.T441T|KIAA0319_ENST00000543707.1_Silent_p.T450T|KIAA0319_ENST00000537886.1_Silent_p.T450T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319			53					TGAGGGCTGACGTCAAAGGCA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000378214.3	0	0	hg19	CCDS34348.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	1	0	1	11	54	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	0.998828	11	54	0	12	2		0	0	0	0	12	2	-19.693130	1	0	121334	27	42	1	1	2	3	2.152451	0	0.570000	1.770000	0.571222	0.600000	3.300000e-01	0.970000	0.590000	0.621773	0.600000	0	4.500000e-01	7.800000e-01
MOCS1	4337	broad.mit.edu	37	6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000340692.5	-	6	742	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000373186.4_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1			21	Ovarian(28;0.0355)|Colorectal(47;0.196)				GGCATATACTCTATGAAGCGC	0.582000													NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											0							SO:0001583	missense			ENST00000340692.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.1	4.801911	0.90538	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69	4.68	4.68	0.58851	Elongator protein 3/MiaB/NifB (1);Molybdenum cofactor synthesis C-terminal (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99984	5.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.998;0.997	D	0.97279	0.9916	9	.	.	.	-29.1172	17.2165	0.86945	0.0:1.0:0.0:0.0	.	247;247;247;247;247	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	Q	247;247;218;247;160;247;247;218	ENSP00000362282:E247Q;ENSP00000309843:E247Q;ENSP00000362270:E218Q;ENSP00000362284:E247Q;ENSP00000362291:E160Q;ENSP00000344794:E247Q;ENSP00000416478:E247Q;ENSP00000410809:E218Q	.	E	-	1	0	MOCS1	39989057	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.783000	0.85696	2.166000	0.68216	0.655000	0.94253	GAG		TCGA-OE-A75W-01A-12D-A32N-08	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	1	0	1	72	213	0	51	0	7.058376e-01	0	9	0	51	2		0	0	0	0	0	2	1	1.000000	72	211	0	51	2		0	0	0	0	51	2	-4.883959	1	1	0	0		1	1	2	3	2.167841	0	0.570000	1.770000	0.572437	0.880000	7.100000e-01	1.000000	1.000000	0.890290	0.880000	1	8.000000e-01	9.900000e-01
RREB1	6239	broad.mit.edu	37	6	7246974	7246974	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:7246974G>A	ENST00000349384.6	+	11	4440	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	RREB1_ENST00000379938.2_Missense_Mutation_p.E1431K|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			CAAGCTGGCGGAGGGCGACGG	0.687000																								0							SO:0001583	missense			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252018	0.22880	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.11495	2.8;2.77;2.8	5.6	2.79	0.32731	.	.	.	.	.	T	0.03390	0.0098	L	0.52573	1.65	0.42564	D	0.993153	P;P	0.39022	0.524;0.655	B;B	0.30855	0.095;0.121	T	0.46857	-0.9161	9	0.29301	T	0.29	-19.3632	10.5135	0.44876	0.0679:0.2532:0.6789:0.0	.	1376;1431	Q92766;Q92766-2	RREB1_HUMAN;.	K	1376;1431;1376	ENSP00000369265:E1376K;ENSP00000369270:E1431K;ENSP00000305560:E1376K	ENSP00000305560:E1376K	E	+	1	0	RREB1	7191973	1.000000	0.71417	0.020000	0.16555	0.035000	0.12851	3.103000	0.50298	0.297000	0.22615	0.655000	0.94253	GAG		TCGA-OE-A75W-01A-12D-A32N-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0	0	0	8	30	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	0.992080	8	30	0	9	2		0	0	0	0	9	2	-17.555920	1	1	0	0		1	1	2	3	2.152451	0	0.570000	1.770000	0.571222	0.750000	3.700000e-01	1.000000	1.000000	0.754088	0.750000	0	5.400000e-01	1
DNAJC2	27000	broad.mit.edu	37	7	102960230	102960230	+	Missense_Mutation	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:102960230T>G	ENST00000379263.3	-	11	1395	c.1145A>C	c.(1144-1146)aAa>aCa	p.K382T	DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2			21					ATCACAAAGTTTTTCCACTTC	0.353000																								0							SO:0001583	missense			ENST00000379263.3	0	1	hg19	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487186	0.84854	.	.	ENSG00000105821	ENST00000379263	T	0.44482	0.92	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.60495	0.2273	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55289	-0.8164	10	0.20046	T	0.44	-28.1622	16.2853	0.82717	0.0:0.0:0.0:1.0	.	382	Q99543	DNJC2_HUMAN	T	382	ENSP00000368565:K382T	ENSP00000368565:K382T	K	-	2	0	DNAJC2	102747466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.665000	0.83852	2.236000	0.73375	0.528000	0.53228	AAA		TCGA-OE-A75W-01A-12D-A32N-08	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1	0	0	0	8	739	0	116	0	3.579704e-01	0	106	0	116	2		0	0	0	0	0	2	1	0.988618	8	726	0	116	2		0	0	0	0	116	2	-3.318556	1	1	0	0		1	1	2	3	2.187475	0	0.570000	1.770000	0.574847	0.030000	0	1.000000	0.040000	0.070284	0.030000	0	2.000000e-02	6.000000e-02
GRM8	2918	broad.mit.edu	37	7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000405249.1_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8			125		Prostate(267;0.186)			CTGTTCATAAGATGAATCCCG	0.388000										HNSCC(24;0.065)														0							SO:0001583	missense			ENST00000339582.2	1	1	hg19	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783695	0.16189	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.247838	0.38217	N	0.001768	D	0.82848	0.5126	L	0.29908	0.895	0.44247	D	0.997094	B;B;B	0.29378	0.243;0.141;0.037	B;B;B	0.35114	0.196;0.054;0.043	T	0.80455	-0.1375	10	0.46703	T	0.11	.	14.7788	0.69749	0.0:0.1438:0.8562:0.0	.	395;395;395	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	F	395	ENSP00000344173:S395F;ENSP00000409790:S395F;ENSP00000351142:S395F;ENSP00000385731:S395F	ENSP00000344173:S395F	S	-	2	0	GRM8	126197328	0.998000	0.40836	0.781000	0.31783	0.040000	0.13550	2.992000	0.49417	2.769000	0.95229	0.655000	0.94253	TCT		TCGA-OE-A75W-01A-12D-A32N-08	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	1	0	1	47	89	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	1.000000	47	89	0	27	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.187475	0	0.570000	1.770000	0.574847	0.990000	9.500000e-01	1.000000	1.000000	0.997232	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149523658	149523658	+	RNA	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:149523658G>C	ENST00000378016.2	+	0	14572							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		TGGCTGCCCTGGAGGGCAGGT	0.672000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-OE-A75W-01A-12D-A32N-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	23	56	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1.000000	23	53	0	22	2		0	0	0	0	23	2	-20.000000	1	1	0	0		1	0	0	0	2.086752	0	0.570000	1.770000	0.557385	0.980000	6.700000e-01	1.000000	1.000000	0.932000	0.980000	1	8.200000e-01	1
TMUB1	83590	broad.mit.edu	37	7	150779321	150779321	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMUB1_ENST00000297533.4_Silent_p.L110L|FASTK_ENST00000482571.1_5'Flank|TMUB1_ENST00000482202.1_Silent_p.L110L|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000476627.1_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000489884.1_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1			2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		CTGAATCATTGAGGAATTTCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000392818.3	0	1	hg19	CCDS5920.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	0	0	0	12	1380	0	324	1	9.483590e-01	7	573	0	324	2		0	0	0	0	0	2	1	0.999024	10	1363	0	322	2		0	0	0	0	324	2	-2.329838	0	1	0	0		1	0	0	0	2.086752	0	0.570000	1.770000	0.557385	0.020000	0	0.050000	0.040000	0.031941	0.020000	0	1.000000e-02	4.000000e-02
SHH	6469	broad.mit.edu	37	7	155604784	155604784	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog			14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)		AGGAGACGAGGACTAGCAGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000297261.2	0	1	hg19	CCDS5942.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	0	0	0	10	523	0	119	0	8.852774e-03	0	7	0	119	2		0	0	0	0	0	2	1	0.996687	10	516	0	112	2		0	0	0	0	119	2	-8.265762	1	1	0	0		1	0	0	0	2.086752	0	0.570000	1.770000	0.557385	0.060000	2.000000e-02	0.110000	0.060000	0.069979	0.060000	0	4.000000e-02	9.000000e-02
SDK1	221935	broad.mit.edu	37	7	4089014	4089014	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000404826.2	+	18	2776	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000389531.3_Silent_p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			TGCAGACGGAAGCCGTGAACT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1	53	170	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1.000000	53	169	0	44	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	1	2	3	2.187475	0	0.570000	1.770000	0.574847	0.840000	6.500000e-01	1.000000	1.000000	0.849883	0.840000	0	7.400000e-01	9.600000e-01
DDC	1644	broad.mit.edu	37	7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C	rs150760434		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000444124.2	-	6	852	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.R218G|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000357936.5_Missense_Mutation_p.R218G	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)			40	Glioma(55;0.08)|all_neural(89;0.245)			Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGACGCACGCATGGCGAAG	0.532000																								0							SO:0001583	missense			ENST00000444124.2	1	1	hg19	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.186512|3.186512	0.57909|0.57909	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13	6.06|6.06	4.2|4.2	0.49525|0.49525	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.102551	.|0.64402	.|D	.|0.000006	T|T	0.65186|0.65186	0.2667|0.2667	H|H	0.95187|0.95187	3.635|3.635	0.48632|0.48632	D|D	0.999681|0.999681	.|B;B	.|0.33103	.|0.397;0.397	.|B;B	.|0.43251	.|0.413;0.413	T|T	0.71807|0.71807	-0.4481|-0.4481	5|10	.|0.87932	.|D	.|0	-7.8105|-7.8105	14.373|14.373	0.66854|0.66854	0.0:0.0:0.7221:0.2779|0.0:0.0:0.7221:0.2779	.|.	.|218;218	.|Q53Y41;P20711	.|.;DDC_HUMAN	W|G	98|218;140;218;218	.|ENSP00000350616:R218G;ENSP00000395069:R140G;ENSP00000403644:R218G;ENSP00000370371:R218G	.|ENSP00000350616:R218G	C|R	-|-	3|1	2|0	DDC|DDC	50563391|50563391	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.564000|0.564000	0.35744|0.35744	1.378000|1.378000	0.34328|0.34328	0.826000|0.826000	0.34661|0.34661	0.650000|0.650000	0.86243|0.86243	TGC|CGT		TCGA-OE-A75W-01A-12D-A32N-08	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1	1	0	1	130	384	0	103	1	3.742986e-01	3	2	0	103	2	0	0	0	1	0	0	2	1	1.000000	130	380	0	102	2		0	0	0	0	103	2	-6.020745	1	1	121412	1	37	1	1	2	3	2.187475	0	0.570000	1.770000	0.574847	0.890000	7.600000e-01	1.000000	1.000000	0.900253	0.890000	1	8.200000e-01	9.800000e-01
RP1L1	94137	broad.mit.edu	37	8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					CTCATTCATGCGGACCTTCTT	0.662000																								0							SO:0001583	missense			ENST00000382483.3	0	1	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589738	0.28357	.	.	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.82	-5.91	0.02269	.	1.397370	0.05168	N	0.499120	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.35822	-0.9773	10	0.21014	T	0.42	-0.1093	16.5366	0.84374	0.0:0.105:0.0:0.895	.	314	A6NKC6	.	H	314	ENSP00000371923:R314H	ENSP00000371923:R314H	R	-	2	0	RP1L1	10508077	0.003000	0.15002	0.013000	0.15412	0.915000	0.54546	0.048000	0.14078	-1.353000	0.02191	0.591000	0.81541	CGC		TCGA-OE-A75W-01A-12D-A32N-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0	0	0	6	573	1	174		0	0	0	1	174	2		0	0	0	0	0	2	0	0.076678	6	565	1	174	13		0	0	0	1	174	2	-2.022498	0	1	121092	2	40	1	0	1	1	1.571413	1	0.570000	1.770000	0.400989	0.020000	0	0.050000	0.030000	0.030283	0.020000	0	1.000000e-02	4.000000e-02
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	p.F203F(1)		21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)		CAGGAGCCTTCGGTGGGTGTG	0.632000																								1	Substitution - coding silent(1)						SO:0001630	splice_region_variant			ENST00000250160.6	1	0	hg19	CCDS6371.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	1	0	1	65	207	0	56	0	1.471406e-01	0	3	0	56	2		0	0	0	0	0	2	1	1.000000	63	204	0	56	2		0	0	0	0	56	2	-20.000000	1	1	120958	8	36	1	0	3	3	2.850194	1	0.570000	1.770000	0.665370	0.990000	8.500000e-01	1.000000	1.000000	0.984538	0.990000	1	9.600000e-01	1
PLEC	5339	broad.mit.edu	37	8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GGCAGAAGGCGCAAGCCCGTC	0.597000																								0							SO:0001583	missense			ENST00000322810.4	0	1	hg19	CCDS43772.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.854	-0.237549	0.05944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.72	2.67	0.31697	.	0.448841	0.19000	U	0.125371	T	0.36248	0.0960	N	0.03115	-0.41	0.40996	D	0.984897	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.26883	-1.0090	10	0.59425	D	0.04	.	2.1195	0.03723	0.3623:0.0:0.392:0.2457	.	3566;3525;3517;3676;3507;3539;3543;3539	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3539;3543;3539;3507;3676;3517;3525;3566;3562	ENSP00000344848:R3539C;ENSP00000350277:R3543C;ENSP00000346602:R3539C;ENSP00000381756:R3507C;ENSP00000323856:R3676C;ENSP00000347044:R3517C;ENSP00000348702:R3525C;ENSP00000388180:R3566C;ENSP00000434583:R3562C	ENSP00000323856:R3676C	R	-	1	0	PLEC	145065362	0.756000	0.28383	0.916000	0.36221	0.053000	0.15095	2.222000	0.42926	1.111000	0.41721	0.448000	0.29417	CGC		TCGA-OE-A75W-01A-12D-A32N-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	0	0	9	1265	1	217	0	1.435946e-02	0	161	1	217	5		0	0	0	0	0	2	0	0.027185	9	1246	1	213	20		0	0	0	1	217	2	-2.025378	0	1	120920	20	47	1	0	3	3	2.850194	1	0.570000	1.770000	0.665370	0.020000	0	0.060000	0.030000	0.032847	0.020000	0	1.000000e-02	5.000000e-02
MURC	347273	broad.mit.edu	37	9	103340638	103340638	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein			16		Acute lymphoblastic leukemia(62;0.0461)			TCCAGATTGACCTGTTGAAGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000307584.5	0	1	hg19	CCDS35083.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	0	0	0	12	482	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.999020	13	471	0	94	2		0	0	0	0	95	2	-3.020032	1	1	0	0		1	0	0	0	2.021774	0	0.570000	1.770000	0.544008	0.070000	3.000000e-02	0.140000	0.080000	0.086570	0.070000	0	5.000000e-02	1.100000e-01
TNC	3371	broad.mit.edu	37	9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000350763.4	-	25	6508	c.6097C>T	c.(6097-6099)Cgc>Tgc	p.R2033C	TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					AAGTTCTCGCGTCCGTTTTTG	0.463000																								0							SO:0001583	missense			ENST00000350763.4	0	1	hg19	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182544|3.182544	0.57800|0.57800	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03|.	5.48|5.48	4.53|4.53	0.55603|0.55603	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.340153|.	0.30401|.	N|.	0.009704|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.48362|0.48362	1.52|1.52	0.26177|0.26177	N|N	0.979773|0.979773	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.71414|.	0.973;0.93|.	T|T	0.32107|0.32107	-0.9919|-0.9919	10|5	0.72032|.	D|.	0.01|.	.|.	3.7527|3.7527	0.08573|0.08573	0.0839:0.1325:0.5337:0.2499|0.0839:0.1325:0.5337:0.2499	.|.	1760;2033|.	E9PC84;P24821|.	.;TENA_HUMAN|.	C|M	1669;1578;1487;1396;2033;1851;1760;1396;1670|595	ENSP00000344400:R1669C;ENSP00000438152:R1578C;ENSP00000344555:R1487C;ENSP00000345861:R1396C;ENSP00000265131:R2033C;ENSP00000339553:R1851C;ENSP00000411406:R1760C;ENSP00000443478:R1396C;ENSP00000442242:R1670C|.	ENSP00000344400:R1669C|.	R|T	-|-	1|2	0|0	TNC|TNC	116831532|116831532	0.934000|0.934000	0.31675|0.31675	0.986000|0.986000	0.45419|0.45419	0.442000|0.442000	0.32017|0.32017	4.235000|4.235000	0.58666|0.58666	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CGC|ACG		TCGA-OE-A75W-01A-12D-A32N-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	0	14	503	0	92	0	8.195302e-01	0	115	0	92	2	1	9.989375e-01	14	704	1	854	5	1	0.999735	13	497	0	91	2		0	0	0	0	92	2	-2.526147	1	1	121412	9	42	1	0	0	0	1.991791	0	0.570000	1.770000	0.538429	0.080000	4.000000e-02	0.140000	0.090000	0.094325	0.080000	0	6.000000e-02	1.200000e-01
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	p.A40A(1)		20					TACTCACTGCGGTGGGGAATG	0.517000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000259466.1	0	1	hg19	CCDS35129.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0	0	0	12	606	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	0.999004	12	593	0	118	2		0	0	0	0	120	2	-2.050768	0	1	0	0		1	0	0	0	1.991791	0	0.570000	1.770000	0.538429	0.060000	2.000000e-02	0.110000	0.070000	0.068434	0.060000	0	4.000000e-02	9.000000e-02
GOLGA1	2800	broad.mit.edu	37	9	127644234	127644234	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1			20					GTCTGATTTTCTGAAAAACCA	0.493000																								0							SO:0001630	splice_region_variant			ENST00000373555.4	1	1	hg19	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633014	0.87660	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA1	126684055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.772000	0.55325	2.745000	0.94114	0.655000	0.94253	.		TCGA-OE-A75W-01A-12D-A32N-08	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	1	0	1	27	215	0	41	0	0	1	0	0	41	2		0	0	0	0	0	2	1	1.000000	27	215	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	0	0	0	1.991791	0	0.570000	1.770000	0.538429	0.360000	2.400000e-01	0.500000	0.370000	0.373781	0.360000	0	3.000000e-01	4.400000e-01
NOTCH1	4851	broad.mit.edu	37	9	139412298	139412298	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CGTCGATCTCGCATCGGGGGC	0.647000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001819	synonymous_variant			ENST00000277541.6	1	1	hg19	CCDS43905.1																																																																																				TCGA-OE-A75W-01A-12D-A32N-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	97	281	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1.000000	97	279	0	87	2		0	0	0	0	89	2	-5.695908	1	1	0	0		1	0	0	0	1.991791	0	0.570000	1.770000	0.538429	0.830000	6.900000e-01	0.980000	0.830000	0.840585	0.830000	0	7.600000e-01	9.100000e-01
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	SO:0001583	missense			ENST00000304494.5	1	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		TCGA-OE-A75W-01A-12D-A32N-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	60	78	0	35	1	1	307	15	0	35	2	1	1	39	53	0	109	2	1	1.000000	54	67	0	30	2		0	0	0	0	35	2	-20.000000	1	1	0	0		1	0	1	1	1.541195	1	0.570000	1.770000	0.398601	0.950000	8.200000e-01	1.000000	0.990000	0.945383	0.950000	1	8.900000e-01	9.900000e-01
ARHGAP4	393	broad.mit.edu	37	X	153187163	153187163	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000350060.5	-	2	208	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4			14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CACCTCAGCGCGGCGCCGCAT	0.697000																								0							SO:0001583	missense			ENST00000350060.5	0	1	hg19	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885319	0.51908	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.41194	D	0.000933	T	0.64853	0.2636	L	0.60455	1.87	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58702	-0.7590	10	0.87932	D	0	.	7.4388	0.27171	0.0:0.8068:0.0:0.1932	.	56;56	Q86UY3;P98171	.;RHG04_HUMAN	H	56;56;56;56;33;33;33	ENSP00000377322:R56H;ENSP00000359045:R56H;ENSP00000203786:R56H;ENSP00000359033:R56H;ENSP00000444169:R33H;ENSP00000398259:R33H;ENSP00000413782:R33H	ENSP00000203786:R56H	R	-	2	0	ARHGAP4	152840357	0.630000	0.27155	0.141000	0.22245	0.297000	0.27493	2.726000	0.47302	2.262000	0.75019	0.436000	0.28706	CGC		TCGA-OE-A75W-01A-12D-A32N-08	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	1	0	1	29	23	0	10	0	9.926918e-01	0	10	0	10	2		0	0	0	0	0	2	1	1.000000	29	23	0	10	2		0	0	0	0	10	2	-20.000000	1	1	120410	1	25	1	0	1	1			0.570000	1.770000	0.570000	0.900000	7.000000e-01	1.000000	0.970000	0.893053	0.900000	1	8.000000e-01	9.700000e-01
