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
CELF2	10659	broad.mit.edu	37	10	11363283	11363283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:11363283G>A	ENST00000379261.4	+	11	1281	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000608830.1_Missense_Mutation_p.A377T|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000609692.1_Missense_Mutation_p.A377T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000315874.4_Missense_Mutation_p.A379T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2			16					CGCAGCCGCCGCGCTGCCCAC	0.657000																								0							SO:0001583	missense			ENST00000379261.4	1	1	hg19	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318107	0.81469	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.33	5.33	0.75918	.	0.186321	0.32753	N	0.005686	T	0.79094	0.4388	M	0.62723	1.935	0.80722	D	1	P;P;B;D;P;D	0.76494	0.802;0.802;0.078;0.999;0.898;0.991	P;P;B;D;B;P	0.68621	0.471;0.471;0.029;0.959;0.378;0.776	T	0.73836	-0.3857	10	0.25106	T	0.35	-1.3418	19.2874	0.94084	0.0:0.0:1.0:0.0	.	385;403;398;410;410;397	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	T	397;397;410;410;379;377;379;379;387;379;292;203	ENSP00000368563:A397T;ENSP00000406451:A397T;ENSP00000389951:A410T;ENSP00000443926:A410T;ENSP00000382743:A379T;ENSP00000404834:A377T;ENSP00000315328:A379T;ENSP00000346426:A379T;ENSP00000388530:A379T;ENSP00000438884:A292T	ENSP00000315328:A379T	A	+	1	0	CELF2	11403289	1.000000	0.71417	0.344000	0.25628	0.982000	0.71751	9.591000	0.98241	2.789000	0.95967	0.558000	0.71614	GCG		TCGA-IB-8126-01A-11D-2396-08	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	11	293	0	52	0	1.186448e-01	0	15	0	52	2		0	0	0	0	0	2	1	0.998292	11	289	0	52	2		0	0	0	0	52	2	-11.920220	1	1	120968	7	39	1	1	2	3	1.940731	0	0.090000	3.970000	0.122003	0.900000	4.600000e-01	1.000000	1.000000	0.852733	0.900000	1	6.500000e-01	1
KNDC1	85442	broad.mit.edu	37	10	134997481	134997481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:134997481G>A	ENST00000304613.3	+	5	634	c.613G>A	c.(613-615)Gga>Aga	p.G205R	KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R|KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			CGAGTCCTTCGGAGCGCTGCA	0.582000																								0							SO:0001583	missense			ENST00000304613.3	1	1	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494056	0.64186	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20598	2.54;2.54;2.06	4.15	4.15	0.48705	KIND (2);	0.492334	0.17935	U	0.157032	T	0.41766	0.1173	L	0.57536	1.79	0.38641	D	0.951614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41520	-0.9504	10	0.87932	D	0	-17.3865	12.7092	0.57080	0.0:0.0:1.0:0.0	.	140;205	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	R	205;205;140	ENSP00000304437:G205R;ENSP00000357561:G205R;ENSP00000357560:G140R	ENSP00000304437:G205R	G	+	1	0	KNDC1	134847471	0.995000	0.38212	0.998000	0.56505	0.682000	0.39822	3.501000	0.53325	2.255000	0.74692	0.450000	0.29827	GGA		TCGA-IB-8126-01A-11D-2396-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	0	0	0	13	304	0	60	0	5.966550e-03	0	3	0	60	2		0	0	0	0	0	2	1	0.999532	13	301	0	60	2		0	0	0	0	60	2	-3.064027	1	1	121378	3	34	1	1	2	3	2.008180	0	0.090000	3.970000	0.129187	0.960000	5.400000e-01	1.000000	1.000000	0.895549	0.960000	1	7.300000e-01	1
CHAT	1103	broad.mit.edu	37	10	50827783	50827783	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:50827783C>T	ENST00000337653.2	+	3	553	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000395562.2_Silent_p.L52L|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000351556.3_Silent_p.L16L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase			56		all_neural(218;0.107)		Choline(DB00122)|Nicotine(DB00184)	GCTGCCCAAACTGCCCGTGCC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000337653.2	1	1	hg19	CCDS7232.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	0	6	137	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	0.966001	6	137	0	23	2		0	0	0	0	24	2	-8.996124	1	1	0	0		1	1	2	3	2.016533	0	0.090000	3.970000	0.129187	0.990000	4.300000e-01	1.000000	1.000000	0.880847	0.990000	1	6.800000e-01	1
OR5D18	219438	broad.mit.edu	37	11	55587727	55587727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55587727G>T	ENST00000333976.4	+	1	642	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18			55		all_epithelial(135;0.208)			CACCTTTAATGAAATCAGCAC	0.448000																								0							SO:0001587	stop_gained			ENST00000333976.4	0	1	hg19	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.242711	0.22796	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	3.92	0.45320	.	1.005710	0.08015	N	0.991100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.2984	7.6562	0.28377	0.0887:0.0:0.7453:0.166	.	.	.	.	X	208	.	ENSP00000335025:E208X	E	+	1	0	OR5D18	55344303	0.000000	0.05858	0.891000	0.34965	0.219000	0.24729	0.634000	0.24614	2.462000	0.83206	0.567000	0.79289	GAA		TCGA-IB-8126-01A-11D-2396-08	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	0	0	0	14	496	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	0.999742	14	491	0	108	2		0	0	0	0	108	2	-12.233260	1	1	0	0		1	1	2	3	1.968950	0	0.090000	3.970000	0.128811	0.650000	3.700000e-01	1.000000	1.000000	0.667472	0.650000	0	4.900000e-01	8.400000e-01
ARAP1	116985	broad.mit.edu	37	11	72422096	72422096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:72422096G>A	ENST00000393609.3	-	9	1385	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.R395*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1			27					GCAAAGGTTCGGTTGTTTGTG	0.547000													Ovarian(102;1198 1520 13195 17913 37529)											0							SO:0001587	stop_gained			ENST00000393609.3	0	1	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	45	11.461141	0.99564	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	5.52	4.61	0.57282	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6244	0.62155	0.0:0.0:0.8439:0.1561	.	.	.	.	X	395;395;155;150;395;150;150;184	.	ENSP00000335506:R150X	R	-	1	2	ARAP1	72099744	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.092000	0.50207	1.343000	0.45638	-0.152000	0.13540	CGA		TCGA-IB-8126-01A-11D-2396-08	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	1	0	0	31	629	0	98	0	7.937185e-01	0	62	0	98	2		0	0	0	0	0	2	1	1.000000	31	622	0	98	2		0	0	0	0	98	2	-2.607054	1	1	0	0		1	1	2	3	2.014809	0	0.090000	3.970000	0.129187	0.990000	7.600000e-01	1.000000	1.000000	0.968826	0.990000	1	9.100000e-01	1
DENND5A	23258	broad.mit.edu	37	11	9225319	9225319	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:9225319A>G	ENST00000328194.3	-	4	1157	c.837T>C	c.(835-837)ctT>ctC	p.L279L	DENND5A_ENST00000530044.1_Silent_p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					CAAATAGGGGAAGCTCATTGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000328194.3	0	1	hg19	CCDS31423.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	0	0	0	5	575	0	93	0	9.677867e-02	0	49	0	93	2		0	0	0	0	0	2	1	0.936643	5	571	0	93	2		0	0	0	0	93	2	-4.554739	1	1	0	0		1	1	2	3	1.968950	0	0.090000	3.970000	0.128811	0.210000	7.000000e-02	0.460000	0.200000	0.236516	0.210000	0	1.300000e-01	3.300000e-01
HSP90B1	7184	broad.mit.edu	37	12	104327988	104327988	+	Silent	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:104327988C>A	ENST00000299767.5	+	5	848	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1			29				Rifabutin(DB00615)	CCCAGCACATCTGGGAGTCTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000299767.5	1	1	hg19	CCDS9094.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	0	0	0	11	277	0	54	1	9.999966e-01	16	680	0	54	2		0	0	0	0	0	2	1	0.998325	11	275	0	55	2		0	0	0	0	54	2	-12.315890	1	1	0	0		1	1	2	3	2.001934	0	0.090000	3.970000	0.129187	0.900000	4.800000e-01	1.000000	1.000000	0.859484	0.900000	1	6.700000e-01	1
CAPZA3	93661	broad.mit.edu	37	12	18891852	18891852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:18891852A>G	ENST00000317658.3	+	1	808	c.650A>G	c.(649-651)aAc>aGc	p.N217S	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3			19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)			GAAATAGTTAACCAAGCTCAA	0.398000																								0							SO:0001583	missense			ENST00000317658.3	1	1	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972165	0.53614	0.0	1.16E-4	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.288858	0.31673	N	0.007253	T	0.61850	0.2380	L	0.41906	1.305	0.37992	D	0.933951	D	0.59767	0.986	P	0.58928	0.848	T	0.65158	-0.6236	9	0.40728	T	0.16	-22.2602	11.8334	0.52309	1.0:0.0:0.0:0.0	.	217	Q96KX2	CAZA3_HUMAN	S	217	.	ENSP00000326238:N217S	N	+	2	0	CAPZA3	18783119	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.478000	0.66806	2.021000	0.59480	0.379000	0.24179	AAC		TCGA-IB-8126-01A-11D-2396-08	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	0	0	0	8	251	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	0.989175	8	248	0	61	2		0	0	0	0	61	2	-9.764521	1	1	121406	1	28	1	1	2	3	2.003616	0	0.090000	3.970000	0.129187	0.740000	3.500000e-01	1.000000	1.000000	0.747274	0.740000	0	5.200000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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			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-IB-8126-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1		0		0	80	0	25			0	15	0	25				7	371	0	365				0	79	0	25				1055	6830	0	25		-2.752535	1	1	121404	2	44	1	1	2	3	2.003616	0	0.090000	3.970000	0.129187	0.180000	0	1.000000	0.010000	0.287707	0.180000	0	4.000000e-02	5.500000e-01
KRT7	3855	broad.mit.edu	37	12	52639299	52639299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:52639299G>T	ENST00000331817.5	+	7	1271	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7			14				Primaquine(DB01087)	GCCCTGCAGCGGGGCAAGCAG	0.647000																								0							SO:0001583	missense			ENST00000331817.5	0	1	hg19	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739868	0.30865	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.89050	-2.46	4.4	1.11	0.20524	Filament (1);	1.896280	0.03317	N	0.191374	D	0.86447	0.5935	L	0.47190	1.495	0.29184	N	0.876328	P	0.43701	0.815	B	0.40477	0.33	T	0.75634	-0.3250	10	0.87932	D	0	.	8.4518	0.32875	0.7315:0.0:0.2685:0.0	.	363	P08729	K2C7_HUMAN	L	363;339	ENSP00000329243:R363L	ENSP00000329243:R363L	R	+	2	0	KRT7	50925566	0.867000	0.29959	0.022000	0.16811	0.005000	0.04900	1.090000	0.30902	0.096000	0.17463	-0.258000	0.10820	CGG		TCGA-IB-8126-01A-11D-2396-08	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	0	0	0	5	448	0	57	0	8.057674e-01	0	271	0	57	2		0	0	0	0	0	2	1	0.935277	5	441	0	57	2		0	0	0	0	57	2	-4.429121	1	1	0	0		1	1	2	3	2.001934	0	0.090000	3.970000	0.129187	0.270000	1.000000e-01	0.560000	0.250000	0.301673	0.270000	0	1.700000e-01	4.200000e-01
C3AR1	719	broad.mit.edu	37	12	8211546	8211546	+	Silent	SNP	A	A	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:8211546A>C	ENST00000307637.4	-	2	1439	c.1236T>G	c.(1234-1236)acT>acG	p.T412T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1			20					AGGACATCAGAGTTTTCCCCA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000307637.4	1	1	hg19	CCDS8588.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	0	0	0	10	285	0	70	0	5.366142e-01	0	50	0	70	2		0	0	0	0	0	2	1	0.996800	10	281	0	69	2		0	0	0	0	70	2	-11.397040	1	1	0	0		1	1	2	3	2.003616	0	0.090000	3.970000	0.129187	0.800000	4.100000e-01	1.000000	1.000000	0.797415	0.800000	0	5.900000e-01	1
CCDC70	83446	broad.mit.edu	37	13	52439917	52439917	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:52439917T>A	ENST00000242819.4	+	2	699	c.403T>A	c.(403-405)Ttc>Atc	p.F135I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70			15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)			GGATAAGGCCTTCTGGAAAGA	0.478000																								0							SO:0001583	missense			ENST00000242819.4	1	1	hg19	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949934	0.34377	.	.	ENSG00000123171	ENST00000242819	T	0.20738	2.05	5.78	-0.997	0.10215	.	0.097664	0.45606	D	0.000357	T	0.30230	0.0758	M	0.70595	2.14	0.09310	N	1	D	0.56287	0.975	P	0.53035	0.716	T	0.17077	-1.0381	10	0.42905	T	0.14	-25.4087	10.0609	0.42275	0.0:0.3629:0.0:0.6371	.	135	Q6NSX1	CCD70_HUMAN	I	135	ENSP00000242819:F135I	ENSP00000242819:F135I	F	+	1	0	CCDC70	51337918	0.963000	0.33076	0.000000	0.03702	0.005000	0.04900	1.723000	0.38053	-0.085000	0.12573	-0.256000	0.11100	TTC		TCGA-IB-8126-01A-11D-2396-08	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	1	0	0	45	947	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1.000000	44	939	0	117	2		0	0	0	0	118	2	-5.262018	1	1	0	0		1	1	2	3	1.946162	0	0.090000	3.970000	0.123145	0.990000	7.800000e-01	1.000000	1.000000	0.969733	0.990000	1	9.100000e-01	1
TGM5	9333	broad.mit.edu	37	15	43527834	43527834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:43527834G>A	ENST00000220420.5	-	10	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5			44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		L-Glutamine(DB00130)	CATGTTGGGCGGGTCGAGCAG	0.567000																								0							SO:0001583	missense			ENST00000220420.5	1	1	hg19	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411308	0.11812	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68624	-0.34;-0.34	5.58	3.58	0.41010	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.439796	0.24666	N	0.036588	T	0.54838	0.1883	L	0.47016	1.485	0.09310	N	1	B;B	0.30937	0.136;0.301	B;B	0.24269	0.024;0.052	T	0.49041	-0.8980	10	0.39692	T	0.17	-0.4586	10.2275	0.43233	0.0:0.1477:0.6995:0.1528	.	434;516	O43548-2;O43548	.;TGM5_HUMAN	L	516;434;515	ENSP00000220420:P516L;ENSP00000220419:P434L	ENSP00000220420:P516L	P	-	2	0	TGM5	41315126	0.094000	0.21725	0.008000	0.14137	0.083000	0.17756	2.334000	0.43920	1.351000	0.45789	-0.165000	0.13383	CCG		TCGA-IB-8126-01A-11D-2396-08	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	1	0	0	11	238	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.998441	12	237	0	36	2		0	0	0	0	36	2	-2.901027	1	1	121412	4	33	1	1	2	3	2.011097	0	0.090000	3.970000	0.129187	0.990000	5.600000e-01	1.000000	1.000000	0.918569	0.990000	1	7.700000e-01	1
IL16	3603	broad.mit.edu	37	15	81592482	81592482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592482G>A	ENST00000302987.4	+	13	2815	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	IL16_ENST00000394660.2_Missense_Mutation_p.D939N|IL16_ENST00000394652.2_Missense_Mutation_p.D238N			Q14005	IL16_HUMAN	interleukin 16			57					CCCTGGCCCGGACCCGCTCCT	0.657000																								0							SO:0001583	missense			ENST00000302987.4	0	1	hg19	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211166	0.79240	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.11495	2.77;2.78;3.37	4.85	4.85	0.62838	.	0.267702	0.26731	N	0.022788	T	0.24928	0.0605	L	0.46157	1.445	0.36294	D	0.856591	D;D;D;D;B;D	0.89917	0.997;0.965;1.0;1.0;0.166;0.991	P;P;D;D;B;P	0.83275	0.844;0.703;0.994;0.996;0.017;0.798	T	0.08126	-1.0737	10	0.62326	D	0.03	.	11.7533	0.51862	0.0853:0.0:0.9147:0.0	.	771;432;476;329;939;939	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	N	939;771;939;476;329;238;238	ENSP00000378155:D939N;ENSP00000302935:D939N;ENSP00000378147:D238N	ENSP00000302935:D939N	D	+	1	0	IL16	79379537	0.986000	0.35501	0.367000	0.25926	0.037000	0.13140	3.537000	0.53590	2.236000	0.73375	0.655000	0.94253	GAC		TCGA-IB-8126-01A-11D-2396-08	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	0	0	0	6	304	0	61	0	3.659531e-01	0	58	0	61	2		0	0	0	0	0	2	1	0.962451	6	296	0	59	2		0	0	0	0	61	2	-6.807217	1	1	0	0		1	1	2	3	2.011097	0	0.090000	3.970000	0.129187	0.470000	2.000000e-01	0.900000	0.450000	0.508048	0.470000	0	3.100000e-01	6.900000e-01
SBK1	388228	broad.mit.edu	37	16	28331735	28331735	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:28331735G>A	ENST00000341901.4	+	4	1557	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1			5					GGGAGGCGGCGTCGGGCGCCG	0.746000																								0							SO:0001819	synonymous_variant			ENST00000341901.4	1	1	hg19	CCDS32416.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	1	0	0	11	160	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.998456	10	160	0	44	2		0	0	0	0	44	2	-15.370900	1	1	0	0		1	1	2	3	2.017862	0	0.090000	3.970000	0.129187	0.990000	8.100000e-01	1.000000	1.000000	0.988269	0.990000	1	9.900000e-01	1
HSD17B2	3294	broad.mit.edu	37	16	82131809	82131809	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:82131809A>G	ENST00000199936.4	+	5	1125	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2			10					CTATTGATCAACTCGTTAGCC	0.542000																								0							SO:0001583	missense			ENST00000199936.4	1	1	hg19	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	a	5.085	0.201396	0.09652	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.57	-9.36	0.00629	NAD(P)-binding domain (1);	2.782280	0.00732	N	0.000947	T	0.56645	0.1999	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57740	-0.7759	10	0.08837	T	0.75	.	0.9019	0.01276	0.281:0.2882:0.2436:0.1872	.	311	P37059	DHB2_HUMAN	S	311	ENSP00000199936:N311S	ENSP00000199936:N311S	N	+	2	0	HSD17B2	80689310	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.845000	0.01677	-1.859000	0.01156	0.533000	0.62120	AAC		TCGA-IB-8126-01A-11D-2396-08	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	0	0	0	20	504	0	110	1	9.769839e-01	10	146	0	110	2		0	0	0	0	0	2	1	0.999995	20	499	0	110	2		0	0	0	0	110	2	-4.258489	1	1	121412	1	32	1	1	2	3	2.012426	0	0.090000	3.970000	0.129187	0.890000	5.600000e-01	1.000000	1.000000	0.870578	0.890000	1	7.100000e-01	1
CDT1	81620	broad.mit.edu	37	16	88871873	88871873	+	Missense_Mutation	SNP	C	C	T	rs3218727	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:88871873C>T	ENST00000301019.4	+	4	1133	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1			7					CGCCTACCAGCGCTTCCATGC	0.677000													Melanoma(159;511 3380 30971)											0							SO:0001583	missense			ENST00000301019.4	0	1	hg19	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644116	0.87859	0.003412	0.0	ENSG00000167513	ENST00000301019	T	0.28255	1.62	4.68	3.66	0.41972	.	0.111388	0.64402	D	0.000007	T	0.56217	0.1970	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64089	-0.6489	10	0.87932	D	0	-22.4772	15.3458	0.74337	0.0:0.8602:0.1398:0.0	rs3218727	172	Q9H211	CDT1_HUMAN	C	172	ENSP00000301019:R172C	ENSP00000301019:R172C	R	+	1	0	CDT1	87399374	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.838000	0.55828	2.319000	0.78375	0.462000	0.41574	CGC		TCGA-IB-8126-01A-11D-2396-08	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	0	0	0	9	354	0	45	0	4.727954e-03	1	3	0	45	2		0	0	0	0	0	2	1	0.994142	9	351	0	44	2		0	0	0	0	45	2	-8.880385	1	1	121224	43	47	1	1	2	3	2.012426	0	0.090000	3.970000	0.129187	0.590000	2.900000e-01	1.000000	1.000000	0.619910	0.590000	0	4.200000e-01	8.100000e-01
GRIN2A	2903	broad.mit.edu	37	16	9862737	9862737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:9862737G>A	ENST00000396573.2	-	13	2875	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACCCAGGCCGGTCGGAGCAC	0.567000																								0							SO:0001583	missense			ENST00000396573.2	1	1	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066263	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.44	3.33	0.38152	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.155509	0.56097	D	0.000031	T	0.28928	0.0718	M	0.64997	1.995	0.37896	D	0.930866	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70016	0.944;0.967;0.913	T	0.04885	-1.0920	9	.	.	.	.	9.4317	0.38615	0.0:0.0:0.5699:0.4301	.	699;856;856	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	856;856;699;856;856	ENSP00000379818:R856W;ENSP00000385872:R856W;ENSP00000441572:R699W;ENSP00000332549:R856W;ENSP00000379820:R856W	.	R	-	1	2	GRIN2A	9770238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.673000	0.61604	2.170000	0.68504	0.563000	0.77884	CGG		TCGA-IB-8126-01A-11D-2396-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	0	0	0	17	818	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	0.999961	17	809	0	98	2		0	0	0	0	98	2	-2.115213	0	1	121412	1	39	1	1	2	3	2.004762	0	0.090000	3.970000	0.129187	0.480000	2.800000e-01	0.720000	0.480000	0.495365	0.480000	0	3.700000e-01	6.100000e-01
KIAA0100	9703	broad.mit.edu	37	17	26946933	26946933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:26946933C>T	ENST00000528896.2	-	30	5539	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				CACATGCTGCCGCACAGCCTC	0.493000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208479	0.95069	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.53423	0.62;0.62	5.53	5.53	0.82687	FMP27,  C-terminal (1);	0.051185	0.64402	D	0.000001	T	0.71576	0.3356	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69826	-0.5040	10	0.38643	T	0.18	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	1822	Q14667	K0100_HUMAN	Q	1822;1792;1822;1679	ENSP00000436773:R1822Q;ENSP00000446443:R1679Q	ENSP00000005905:R1822Q	R	-	2	0	KIAA0100	23971060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.448000	0.66612	2.768000	0.95171	0.655000	0.94253	CGG		TCGA-IB-8126-01A-11D-2396-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	0	13	385	0	62	1	7.877712e-01	3	85	0	62	2		0	0	0	0	0	2	1	0.999528	13	382	0	62	2		0	0	0	0	62	2	-2.516486	1	1	0	0		1	3	3	6	2.078682	0	0.090000	3.970000	0.198238	0.910000	4.800000e-01	1.000000	1.000000	0.859339	0.910000	1	6.600000e-01	1
NUFIP2	57532	broad.mit.edu	37	17	27613833	27613833	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27613833T>C	ENST00000225388.4	-	2	1237	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2			24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		GACTTGATGATTGGGTCTGAG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000225388.4	1	1	hg19	CCDS32600.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	1	0	0	47	597	0	105	1	9.812358e-01	2	79	0	105	2		0	0	0	0	0	2	1	1.000000	47	591	0	103	2		0	0	0	0	105	2	-10.949910	1	1	0	0		1	3	3	6	2.078682	0	0.090000	3.970000	0.198238	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CSH2	1443	broad.mit.edu	37	17	61949520	61949520	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:61949520T>A	ENST00000392886.2	-	5	771	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2			6					AGAGCGGCACTGCACCATGCG	0.592000																								0							SO:0001583	missense			ENST00000392886.2	1	1	hg19	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	14.32	2.499020	0.44455	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;T	0.90676	-2.71;0.93	3.97	2.88	0.33553	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.587450	0.04964	N	0.462618	D	0.95529	0.8547	M	0.85630	2.765	0.32011	N	0.602031	D;D;P	0.64830	0.994;0.994;0.728	D;D;B	0.74674	0.984;0.984;0.42	D	0.84470	0.0599	10	0.87932	D	0	.	8.0549	0.30600	0.0:0.101:0.0:0.899	.	207;207;112	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	L	112;207	ENSP00000308396:Q112L;ENSP00000376623:Q207L	ENSP00000308396:Q112L	Q	-	2	0	CSH2	59303252	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	3.847000	0.55895	0.570000	0.29347	0.379000	0.24179	CAG		TCGA-IB-8126-01A-11D-2396-08	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	0	0	0	20	437	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.999990	20	402	0	94	2		0	0	0	0	87	2	-4.636657	1	1	0	0		1	1	2	3	1.941436	0	0.090000	3.970000	0.122003	0.990000	6.500000e-01	1.000000	1.000000	0.940701	0.990000	1	8.300000e-01	1
RNF213	57674	broad.mit.edu	37	17	78363984	78363984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78363984G>A	ENST00000582970.1	+	67	15601	c.15458G>A	c.(15457-15459)cGc>cAc	p.R5153H	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GAGCGCTTCCGCCCTCAGTGG	0.483000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985660	0.18889	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.23147	1.95;1.92	5.67	2.26	0.28386	.	0.954721	0.08773	N	0.896005	T	0.17704	0.0425	L	0.43152	1.355	0.20926	N	0.999826	D;P	0.53619	0.961;0.713	B;B	0.35240	0.198;0.139	T	0.16305	-1.0407	10	0.44086	T	0.13	.	6.2579	0.20884	0.6156:0.1201:0.2643:0.0	.	5153;3226	D6RI12;Q63HN8	.;RN213_HUMAN	H	5153;5202;3226;503	ENSP00000425956:R5153H;ENSP00000338218:R3226H	ENSP00000338218:R3226H	R	+	2	0	RNF213	75978579	0.010000	0.17322	0.026000	0.17262	0.011000	0.07611	0.138000	0.16016	0.092000	0.17331	-0.294000	0.09567	CGC		TCGA-IB-8126-01A-11D-2396-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	27	655	0	90	1	9.073145e-01	5	96	0	90	2	0	4.463657e-01	1	36	0	40	2	1	1.000000	27	650	0	87	2		0	0	0	0	90	2	-3.010969	1	1	121392	4	38	1	1	2	3	1.941436	0	0.090000	3.970000	0.122003	0.950000	6.200000e-01	1.000000	1.000000	0.907002	0.950000	1	7.700000e-01	1
VPS13D	55187	broad.mit.edu	37	1	12423195	12423195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:12423195G>A	ENST00000358136.3	+	52	10470	c.10340G>A	c.(10339-10341)cGg>cAg	p.R3447Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)	p.R3447Q(1)		130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CACTGGCCTCGGAATGACTAT	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.752959|5.752959	0.96890|0.96890	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.33438	.|1.41;1.41	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|D;D	.|0.87578	.|0.956;0.998	T|T	0.35943|0.35943	-0.9768|-0.9768	5|10	.|0.31617	.|T	.|0.26	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3422;3446	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	R|Q	2269|3422;3447	.|ENSP00000348666:R3422Q;ENSP00000350854:R3447Q	.|ENSP00000348666:R3422Q	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12345782|12345782	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.863000|0.863000	0.49368|0.49368	9.434000|9.434000	0.97515|0.97515	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGA|CGG		TCGA-IB-8126-01A-11D-2396-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	0	0	16	438	0	119	0	1.082953e-01	0	15	0	119	2		0	0	0	0	0	2	1	0.999931	16	434	0	119	2		0	0	0	0	119	2	-2.331684	0	1	121412	1	35	1	1	2	3	1.951197	0	0.090000	3.970000	0.124284	0.850000	4.900000e-01	1.000000	1.000000	0.837303	0.850000	1	6.500000e-01	1
TNN	63923	broad.mit.edu	37	1	175086325	175086325	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:175086325C>T	ENST00000239462.4	+	10	2483	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N			156		Breast(1374;0.000962)			AGAAGGCTGACACCAAGGCCC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000239462.4	1	1	hg19	CCDS30943.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	0	0	19	481	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	0.999989	19	474	0	82	2		0	0	0	0	82	2	-17.804350	1	1	0	0		1	1	2	3	2.018194	0	0.090000	3.970000	0.129187	0.890000	5.500000e-01	1.000000	1.000000	0.867287	0.890000	1	7.000000e-01	1
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GGACCGTTAACGATATGTTTA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	0	1	hg19	CCDS30956.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	9	391	0	91	0	1.996626e-03	0	2	0	91	2		0	0	0	0	0	2	1	0.994275	9	390	0	91	2		0	0	0	0	91	2	-2.758881	1	1	121412	5	41	1	1	2	3	2.018194	0	0.090000	3.970000	0.129187	0.540000	2.600000e-01	0.930000	0.510000	0.566283	0.540000	0	3.800000e-01	7.300000e-01
SNAP47	116841	broad.mit.edu	37	1	227968309	227968309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:227968309G>A	ENST00000366759.4	+	5	1744	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa			17					TGGCGTTGCAGCAGCTGTGGA	0.597000																								0							SO:0001583	missense			ENST00000366759.4	0	1	hg19	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.565409	0.00903	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.42513	0.97;2.28	4.67	-2.54	0.06307	Target SNARE coiled-coil domain (1);	0.884135	0.10124	N	0.713045	T	0.17109	0.0411	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.28681	-1.0036	10	0.10636	T	0.68	-15.287	4.493	0.11822	0.3799:0.0:0.2016:0.4185	.	444	Q5SQN1	SNP47_HUMAN	T	202;444	ENSP00000355722:A202T;ENSP00000355721:A444T	ENSP00000355721:A444T	A	+	1	0	SNAP47	226034932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.403000	0.07214	-0.674000	0.05253	-0.258000	0.10820	GCA		TCGA-IB-8126-01A-11D-2396-08	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	0	0	0	5	337	0	54	0	1.774911e-01	0	43	0	54	2		0	0	0	0	0	2	1	0.936531	5	334	0	54	2		0	0	0	0	54	2	-4.407505	1	1	0	0		1	1	2	3	2.013594	0	0.090000	3.970000	0.129187	0.360000	1.400000e-01	0.730000	0.330000	0.396879	0.360000	0	2.300000e-01	5.500000e-01
EPB41	2035	broad.mit.edu	37	1	29314163	29314163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:29314163C>T	ENST00000343067.4	+	2	341	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	EPB41_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1			14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)			GAACAAGGAGCGGACATCAGA	0.453000																								0							SO:0001583	missense			ENST00000343067.4	0	1	hg19	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179746	0.78564	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.85258	-1.96;-1.95;-1.78;-1.69;-1.96;-1.94	5.6	5.6	0.85130	.	0.070962	0.56097	D	0.000035	D	0.89150	0.6633	L	0.32530	0.975	0.44500	D	0.997445	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.988;0.999;1.0;0.999	D	0.90061	0.4156	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	72;72;72;72;72	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	W	89;72;72;72;72;72;72;72;72	ENSP00000345259:R72W;ENSP00000348397:R72W;ENSP00000381839:R72W;ENSP00000290100:R72W;ENSP00000362904:R72W;ENSP00000362903:R72W	ENSP00000345259:R72W	R	+	1	2	EPB41	29186750	0.998000	0.40836	0.978000	0.43139	0.926000	0.56050	3.068000	0.50018	2.633000	0.89246	0.650000	0.86243	CGG		TCGA-IB-8126-01A-11D-2396-08	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	0	0	6	954	0	134	0	1.695685e-02	0	26	0	134	2		0	0	0	0	0	2	1	0.963858	6	944	0	134	2		0	0	0	0	134	2	-2.077858	0	1	121412	2	37	1	1	2	3	1.944733	0	0.090000	3.970000	0.122765	0.160000	6.000000e-02	1.000000	0.140000	0.276944	0.160000	0	1.000000e-01	3.000000e-01
PPT1	5538	broad.mit.edu	37	1	40539758	40539758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:40539758G>A	ENST00000433473.3	-	9	1360	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V|PPT1_ENST00000530076.1_Missense_Mutation_p.A80V	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1			11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		TATGATGTGGGCATAAAACCA	0.483000																								0							SO:0001583	missense			ENST00000433473.3	0	1	hg19	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636756	0.29068	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000530076	D;D;D;D	0.97404	-4.37;-4.37;-3.51;-4.37	5.78	3.84	0.44239	.	0.619388	0.16981	N	0.191714	D	0.95541	0.8551	L	0.59436	1.845	0.20196	N	0.999925	B;B;B	0.29571	0.249;0.119;0.01	B;B;B	0.32583	0.024;0.148;0.007	D	0.89878	0.4028	10	0.51188	T	0.08	-0.8945	12.7764	0.57451	0.0:0.0:0.5698:0.4302	.	196;225;299	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	V	299;196;170;80	ENSP00000394863:A299V;ENSP00000392293:A196V;ENSP00000403207:A170V;ENSP00000434007:A80V	ENSP00000394863:A299V	A	-	2	0	PPT1	40312345	0.795000	0.28851	1.000000	0.80357	0.476000	0.33039	1.039000	0.30266	0.720000	0.32209	-0.182000	0.12963	GCC		TCGA-IB-8126-01A-11D-2396-08	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	0	0	0	6	823	0	155	0	4.526501e-01	0	189	0	155	2		0	0	0	0	0	2	1	0.964245	8	816	0	155	2		0	0	0	0	155	2	-2.111416	0	1	121412	1	32	1	1	2	3	1.944733	0	0.090000	3.970000	0.122765	0.190000	7.000000e-02	1.000000	0.170000	0.299513	0.190000	0	1.200000e-01	3.500000e-01
CAMTA1	23261	broad.mit.edu	37	1	7796575	7796575	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:7796575C>T	ENST00000303635.7	+	13	3445	c.3238C>T	c.(3238-3240)Cta>Tta	p.L1080L	CAMTA1_ENST00000439411.2_Silent_p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			CTATGCCACCCTAATCCAGAC	0.607000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001819	synonymous_variant			ENST00000303635.7	1	1	hg19	CCDS30576.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	0	0	0	24	568	0	89	0	5.350727e-03	0	3	0	89	2		0	0	0	0	0	2	1	1.000000	24	564	0	88	2		0	0	0	0	89	2	-2.771097	1	1	0	0		1	1	2	3	1.951197	0	0.090000	3.970000	0.124284	0.970000	6.200000e-01	1.000000	1.000000	0.912950	0.970000	1	7.800000e-01	1
RPRD1B	58490	broad.mit.edu	37	20	36694636	36694636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:36694636C>T	ENST00000373433.4	+	6	1211	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B			12					GATGTTTTGTCGGAGAAGGAG	0.502000																								0							SO:0001583	missense			ENST00000373433.4	1	1	hg19	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538823	0.45176	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.313199	0.35207	N	0.003367	T	0.45377	0.1339	L	0.27053	0.805	0.41599	D	0.988848	B	0.13594	0.008	B	0.10450	0.005	T	0.30208	-0.9986	9	0.39692	T	0.17	-5.9908	14.2206	0.65823	0.0:0.851:0.149:0.0	.	270	Q9NQG5	RPR1B_HUMAN	L	270;152	.	ENSP00000362532:S270L	S	+	2	0	RPRD1B	36128050	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.953000	0.29162	2.941000	0.99782	0.655000	0.94253	TCG		TCGA-IB-8126-01A-11D-2396-08	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	0	0	0	12	482	0	80	0	3.733316e-01	0	50	0	80	2		0	0	0	0	0	2	1	0.999067	12	476	0	79	2		0	0	0	0	80	2	-2.823549	1	1	0	0		1	1	2	3	1.991956	0	0.090000	3.970000	0.129187	0.570000	3.100000e-01	0.930000	0.570000	0.598965	0.570000	0	4.300000e-01	7.600000e-01
TIAM1	7074	broad.mit.edu	37	21	32493078	32493078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:32493078C>T	ENST00000286827.3	-	29	4855	c.4384G>A	c.(4384-4386)Gtc>Atc	p.V1462I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CTTGCGGAGACGGCATCAGAA	0.562000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010725	0.19277	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39056	1.1;1.11	5.14	2.2	0.27929	.	0.290368	0.32147	N	0.006505	T	0.20981	0.0505	N	0.13235	0.315	0.27602	N	0.948927	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.17471	-1.0368	10	0.20046	T	0.44	.	6.7271	0.23363	0.0:0.5879:0.0:0.4121	.	1402;1462	F5GZ53;Q13009	.;TIAM1_HUMAN	I	1462;1402	ENSP00000286827:V1462I;ENSP00000441570:V1402I	ENSP00000286827:V1462I	V	-	1	0	TIAM1	31414949	0.308000	0.24509	0.735000	0.30896	0.916000	0.54674	0.220000	0.17660	0.129000	0.18514	-0.140000	0.14226	GTC		TCGA-IB-8126-01A-11D-2396-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	0	0	0	14	392	0	84	0	8.310043e-02	0	13	0	84	2		0	0	0	0	0	2	1	0.999743	14	387	0	82	2		0	0	0	0	84	2	-13.580230	1	1	121410	14	45	1	1	2	3	2.002735	0	0.090000	3.970000	0.129187	0.810000	4.600000e-01	1.000000	1.000000	0.808561	0.810000	0	6.200000e-01	1
MFSD9	84804	broad.mit.edu	37	2	103335481	103335481	+	Missense_Mutation	SNP	G	G	A	rs144200432	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:103335481G>A	ENST00000258436.5	-	6	866	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9			20					TTCATGTTCCGCAAGGCCAAC	0.557000																								0							SO:0001583	missense			ENST00000258436.5	0	1	hg19	CCDS2063.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.25	2.181450	0.38511	.	.	ENSG00000135953	ENST00000258436	D	0.83250	-1.7	4.97	1.47	0.22746	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665977	0.15409	N	0.263908	T	0.71745	0.3376	L	0.34521	1.04	0.09310	N	1	B	0.18013	0.025	B	0.17098	0.017	T	0.62062	-0.6933	10	0.52906	T	0.07	-5.4226	7.0595	0.25117	0.0938:0.0:0.3214:0.5847	.	275	Q8NBP5	MFSD9_HUMAN	W	275	ENSP00000258436:R275W	ENSP00000258436:R275W	R	-	1	2	MFSD9	102701913	0.437000	0.25593	0.068000	0.19968	0.045000	0.14185	1.372000	0.34261	0.571000	0.29365	0.644000	0.83932	CGG		TCGA-IB-8126-01A-11D-2396-08	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	0	0	0	7	436	1	93	0	1.118152e-02	0	24	1	93	3		0	0	0	0	0	2	0	0.040460	7	430	1	93	16		0	0	0	1	93	2	-2.414887	0	1	121412	8	40	1	1	2	3	2.009564	0	0.090000	3.970000	0.129187	0.380000	1.700000e-01	0.710000	0.360000	0.411070	0.380000	0	2.600000e-01	5.500000e-01
FIGN	55137	broad.mit.edu	37	2	164466495	164466495	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:164466495A>G	ENST00000333129.3	-	3	2161	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin			47					CGAAGTTAGTACAGTGTCCAG	0.423000																								0							SO:0001583	missense			ENST00000333129.3	1	1	hg19	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	4.122	0.020814	0.08006	.	.	ENSG00000182263	ENST00000333129	D	0.94897	-3.55	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.062004	0.64402	D	0.000004	D	0.93324	0.7872	L	0.27975	0.815	0.58432	D	0.999999	P	0.41366	0.747	P	0.55161	0.77	D	0.90675	0.4601	10	0.08837	T	0.75	-17.6067	16.0953	0.81117	1.0:0.0:0.0:0.0	.	616	Q5HY92	FIGN_HUMAN	A	616	ENSP00000333836:V616A	ENSP00000333836:V616A	V	-	2	0	FIGN	164174741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.116000	0.71571	2.204000	0.70986	0.383000	0.25322	GTA		TCGA-IB-8126-01A-11D-2396-08	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	0	0	0	14	481	0	97	0	9.619238e-04	0	2	0	97	2		0	0	0	0	0	2	1	0.999743	13	478	0	96	2		0	0	0	0	97	2	-12.729920	1	1	0	0		1	1	2	3	2.009564	0	0.090000	3.970000	0.129187	0.660000	3.800000e-01	1.000000	1.000000	0.686332	0.660000	0	5.100000e-01	8.600000e-01
WDFY1	57590	broad.mit.edu	37	2	224758990	224758990	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:224758990G>A	ENST00000233055.4	-	8	894	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1			18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)			CTGCAATTCCGCCGTCCGAGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000233055.4	0	1	hg19	CCDS33387.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	0	0	0	8	306	0	53	0	3.522196e-01	1	43	0	53	2		0	0	0	0	0	2	1	0.988900	8	301	0	52	2		0	0	0	0	53	2	-2.887808	1	1	121412	6	36	1	1	2	3	2.009564	0	0.090000	3.970000	0.129187	0.610000	2.900000e-01	1.000000	1.000000	0.639248	0.610000	0	4.300000e-01	8.500000e-01
ALK	238	broad.mit.edu	37	2	30143012	30143012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:30143012C>T	ENST00000389048.3	-	1	1420	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ALK_ENST00000431873.1_Missense_Mutation_p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	340	Acute lymphoblastic leukemia(172;0.155)			Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGAACAGCTCGCTGAGATTG	0.647000			T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		L, E, M	0							SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000389048.3	0	1	hg19	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585036	0.66105	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.80033	-1.33;2.7	5.33	5.33	0.75918	.	.	.	.	.	T	0.69886	0.3161	N	0.24115	0.695	0.32250	N	0.571579	B	0.28258	0.205	B	0.19666	0.026	T	0.68503	-0.5391	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	172	Q9UM73	ALK_HUMAN	K	172	ENSP00000373700:E172K;ENSP00000414027:E172K	.	E	-	1	0	ALK	29996516	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.012000	0.40932	2.652000	0.90054	0.655000	0.94253	GAG		TCGA-IB-8126-01A-11D-2396-08	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	0	0	0	6	248	1	44		0	0	0	1	44	2		0	0	0	0	0	2	0	0.009554	6	248	1	44	18		0	0	0	1	44	2	-3.329602	1	1	0	0		1	1	2	3	2.009564	0	0.090000	3.970000	0.129187	0.580000	2.400000e-01	1.000000	1.000000	0.609013	0.580000	0	3.800000e-01	8.300000e-01
ATG3	64422	broad.mit.edu	37	3	112267472	112267472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:112267472C>T	ENST00000283290.5	-	5	685	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.R84Q	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3			9					CTGTTTGCACCGCTTATAGCA	0.378000																								0							SO:0001583	missense			ENST00000283290.5	0	1	hg19	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539479	0.96474	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.32	5.32	0.75619	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.974	D	0.90176	0.4239	9	0.87932	D	0	0.0444	18.5844	0.91183	0.0:1.0:0.0:0.0	.	84;84	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	Q	84	.	ENSP00000283290:R84Q	R	-	2	0	ATG3	113750162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.416000	0.66417	2.482000	0.83794	0.591000	0.81541	CGG		TCGA-IB-8126-01A-11D-2396-08	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	0	0	0	7	212	0	45	1	9.255595e-01	5	137	0	45	2		0	0	0	0	0	2	1	0.980474	7	210	0	45	2		0	0	0	0	45	2	-2.925876	1	1	121406	2	30	1	1	2	3	2.028119	0	0.090000	3.970000	0.129187	0.770000	3.500000e-01	1.000000	1.000000	0.766263	0.770000	0	5.300000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119128441	119128441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:119128441G>A	ENST00000264245.4	+	11	2276	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					GGAGCCAGGCGCCCACCTGGA	0.542000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	0	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477473	0.01035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05925	3.37	5.27	-10.5	0.00291	.	1.661360	0.03193	N	0.173588	T	0.02083	0.0065	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	5.8933	0.18925	0.5415:0.2715:0.1077:0.0793	.	582	Q2M1Z3	RHG31_HUMAN	T	582	ENSP00000264245:A582T	ENSP00000264245:A582T	A	+	1	0	ARHGAP31	120611131	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.506000	0.00448	-3.278000	0.00198	-1.594000	0.00841	GCC		TCGA-IB-8126-01A-11D-2396-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	0	8	156	0	21	0	3.883010e-01	0	25	0	21	2		0	0	0	0	0	2	1	0.988848	7	153	0	21	2		0	0	0	0	21	2	-10.989630	1	1	120840	4	34	1	1	2	3	2.028119	0	0.090000	3.970000	0.129187	0.990000	5.500000e-01	1.000000	1.000000	0.935818	0.990000	1	8.100000e-01	1
COL6A6	131873	broad.mit.edu	37	3	130284081	130284081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:130284081G>A	ENST00000358511.6	+	3	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6			134					CTTTCTCCCCGAACTGGGAAG	0.478000																								0							SO:0001583	missense			ENST00000358511.6	0	1	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169073	0.01660	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	-2.32	0.06745	von Willebrand factor, type A (3);	1.188040	0.06089	N	0.663415	T	0.57036	0.2026	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38178	-0.9673	10	0.26408	T	0.33	.	12.8264	0.57723	0.4013:0.0:0.5987:0.0	.	302	A6NMZ7	CO6A6_HUMAN	Q	302	ENSP00000351310:R302Q;ENSP00000399236:R302Q	ENSP00000351310:R302Q	R	+	2	0	COL6A6	131766771	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.959000	0.03853	-0.497000	0.06641	-0.459000	0.05422	CGA		TCGA-IB-8126-01A-11D-2396-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	0	0	0	11	430	0	96	0	2.329450e-03	0	3	0	96	2		0	0	0	0	0	2	1	0.998335	11	428	0	95	2		0	0	0	0	96	2	-1.996802	0	1	120804	4	39	1	1	2	3	2.028119	0	0.090000	3.970000	0.129187	0.590000	3.100000e-01	0.970000	1.000000	0.616869	0.590000	0	4.400000e-01	7.900000e-01
LRRIQ4	344657	broad.mit.edu	37	3	169539979	169539979	+	Silent	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:169539979G>T	ENST00000340806.6	+	1	270	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4			30					GCCCGGCGCTGGGGCTGCTGA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000340806.6	0	1	hg19	CCDS46951.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	0	0	0	10	635	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	0.996737	9	629	0	118	2		0	0	0	0	119	2	-2.272507	0	1	0	0		1	1	2	3	2.028119	0	0.090000	3.970000	0.129187	0.370000	1.800000e-01	0.630000	0.360000	0.390689	0.370000	0	2.600000e-01	5.000000e-01
THRB	7068	broad.mit.edu	37	3	24231773	24231773	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:24231773G>A	ENST00000356447.4	-	4	359	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000396671.2_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta			19				Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTTCCAGTCGTGTTCTCGGT	0.493000													Melanoma(21;896 1043 15021 37958)											0							SO:0001819	synonymous_variant			ENST00000356447.4	0	1	hg19	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669381	0.14776	.	.	ENSG00000151090	ENST00000416811	.	.	.	5.93	2.09	0.27110	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.38566	D	0.949829	.	.	.	.	.	.	T	0.64236	-0.6455	5	0.87932	D	0	.	8.5522	0.33458	0.0713:0.5866:0.2416:0.1005	.	.	.	.	M	25	.	ENSP00000414401:T25M	T	-	2	0	THRB	24206777	0.992000	0.36948	0.664000	0.29753	0.990000	0.78478	0.216000	0.17585	0.095000	0.17434	-0.175000	0.13238	ACG		TCGA-IB-8126-01A-11D-2396-08	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	0	0	0	5	405	0	107	0	3.516292e-03	0	6	0	107	2		0	0	0	0	0	2	1	0.935872	5	400	0	107	2		0	0	0	0	107	2	-2.881296	1	1	121412	3	37	1	1	2	3	1.940226	0	0.090000	3.970000	0.122003	0.330000	1.100000e-01	1.000000	0.280000	0.427044	0.330000	0	2.000000e-01	6.700000e-01
TET2	54790	broad.mit.edu	37	4	106157130	106157130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000540549.1	+	3	2891	c.2031T>A	c.(2029-2031)tgT>tgA	p.C677*	TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2			1314		Myeloproliferative disorder(5;0.0393)			AGTCACTGTGTGGCACTAGAT	0.438000			Mis N, F		MDS										Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0							SO:0001587	stop_gained			ENST00000540549.1	0	1	hg19	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020328	0.93462	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	-6.08	0.02151	.	0.621347	0.15973	N	0.235671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.1181	0.42603	0.0:0.5241:0.1056:0.3704	.	.	.	.	X	677;677;677;698;677;677;677	.	ENSP00000265149:C677X	C	+	3	2	TET2	106376579	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.340000	0.07821	-0.678000	0.05224	0.533000	0.62120	TGT		TCGA-IB-8126-01A-11D-2396-08	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	0	0	0	5	398	1	76	0	1.249650e-02	0	11	1	76	2		0	0	0	0	0	2	0	0.004463	5	395	1	76	18		0	0	0	1	76	2	-2.971831	1	1	0	0		1	1	2	3	2.015993	0	0.090000	3.970000	0.129187	0.310000	1.100000e-01	0.620000	0.280000	0.338266	0.310000	0	1.900000e-01	4.700000e-01
SHROOM3	57619	broad.mit.edu	37	4	77661903	77661903	+	Silent	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:77661903C>G	ENST00000296043.6	+	5	3530	c.2577C>G	c.(2575-2577)tcC>tcG	p.S859S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		AAGAGGCTTCCCGGCAGCCCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000296043.6	0	1	hg19	CCDS3579.2																																																																																				TCGA-IB-8126-01A-11D-2396-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	0	0	0	13	369	0	52	1	1.797514e-01	2	19	0	52	2		0	0	0	0	0	2	1	0.999512	13	364	0	52	2		0	0	0	0	52	2	-3.150672	1	1	0	0		1	1	2	3	2.015993	0	0.090000	3.970000	0.129187	0.800000	4.500000e-01	1.000000	1.000000	0.800599	0.800000	0	6.100000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152777116	152777116	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:152777116T>G	ENST00000367255.5	-	23	3233	c.2632A>C	c.(2632-2634)Agt>Cgt	p.S878R	SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TTTTGAACACTTTGACTGCCT	0.363000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	0	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865046	0.51482	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.52983	1.44;1.44;1.44;1.44;0.64;1.44;1.44;1.44;1.44	5.25	4.09	0.47781	.	0.427135	0.21974	N	0.066416	T	0.20861	0.0502	L	0.34521	1.04	0.80722	D	1	B;B;B;P;B;B;B	0.35077	0.112;0.215;0.404;0.483;0.321;0.215;0.21	B;B;B;B;B;B;B	0.36244	0.074;0.063;0.22;0.203;0.146;0.063;0.146	T	0.05937	-1.0855	10	0.52906	T	0.07	.	8.2238	0.31558	0.0:0.1536:0.0:0.8464	.	861;878;445;868;878;878;885	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	R	878;885;878;885;930;878;868;878;445	ENSP00000356224:S878R;ENSP00000396024:S885R;ENSP00000265368:S878R;ENSP00000390975:S885R;ENSP00000341887:S930R;ENSP00000356222:S878R;ENSP00000356217:S868R;ENSP00000414510:S878R;ENSP00000438508:S445R	ENSP00000265368:S878R	S	-	1	0	SYNE1	152818809	0.025000	0.19082	0.998000	0.56505	0.967000	0.64934	1.554000	0.36266	0.845000	0.35118	0.533000	0.62120	AGT		TCGA-IB-8126-01A-11D-2396-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	6	380	0	92	0	3.691253e-04	0	2	0	92	2		0	0	0	0	0	2	1	0.964987	6	379	0	92	2		0	0	0	0	92	2	-3.099545	1	1	0	0		1	1	2	3	2.005936	0	0.090000	3.970000	0.129187	0.380000	1.500000e-01	0.730000	0.360000	0.411515	0.380000	0	2.500000e-01	5.600000e-01
SEPT14	346288	broad.mit.edu	37	7	55872990	55872990	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:55872990G>A	ENST00000388975.3	-	9	1196	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14			23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		CTTTCTCCTTGACTCGCTGCA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000388975.3	0	1	hg19	CCDS5519.2																																																																																				TCGA-IB-8126-01A-11D-2396-08	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	0	0	0	6	201	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.965117	6	200	0	37	2		0	0	0	0	37	2	-3.682513	1	1	0	0		1	1	2	3	2.016128	0	0.090000	3.970000	0.129187	0.710000	3.000000e-01	1.000000	1.000000	0.717387	0.710000	0	4.700000e-01	1
BAI1	575	broad.mit.edu	37	8	143603440	143603440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:143603440C>T	ENST00000517894.1	+	21	4033	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1			57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)				CCTCCGGAACCGCCTCATCCG	0.657000																								0							SO:0001583	missense			ENST00000517894.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.72	2.619636	0.46736	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.50813	0.73;0.73	3.78	2.89	0.33648	.	0.162599	0.41938	U	0.000782	T	0.49762	0.1576	M	0.83603	2.65	0.58432	D	0.999992	B	0.16802	0.019	B	0.17433	0.018	T	0.51593	-0.8686	10	0.72032	D	0.01	.	9.8607	0.41112	0.0:0.897:0.0:0.103	.	1047	E9PBK0	.	C	1047	ENSP00000430945:R1047C;ENSP00000313046:R1047C	ENSP00000313046:R1047C	R	+	1	0	BAI1	143600442	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.563000	0.60823	0.558000	0.29135	0.305000	0.20034	CGC		TCGA-IB-8126-01A-11D-2396-08	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	0	0	0	11	227	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	0.997009	11	200	0	31	2		0	0	0	0	32	2	-2.992802	1	1	121348	2	33	1	1	2	3	2.017890	0	0.090000	3.970000	0.129187	0.990000	5.800000e-01	1.000000	1.000000	0.932854	0.990000	1	8.100000e-01	1
XKR4	114786	broad.mit.edu	37	8	56436505	56436505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:56436505G>A	ENST00000327381.6	+	3	1772	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4			34			Epithelial(17;0.000117)|all cancers(17;0.000836)		TGTTGTCAGCGACCGCGATCA	0.587000																								0							SO:0001583	missense			ENST00000327381.6	0	1	hg19	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413709	0.42817	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	5.95	5.95	0.96441	.	0.453459	0.26616	N	0.023398	T	0.77665	0.4164	L	0.43152	1.355	0.50813	D	0.99989	B	0.33748	0.423	B	0.26094	0.066	T	0.73445	-0.3980	10	0.21014	T	0.42	-4.3001	20.3931	0.98965	0.0:0.0:1.0:0.0	.	558	Q5GH76	XKR4_HUMAN	N	558	ENSP00000328326:D558N	ENSP00000328326:D558N	D	+	1	0	XKR4	56599059	1.000000	0.71417	0.862000	0.33874	0.008000	0.06430	7.863000	0.87023	2.824000	0.97209	0.655000	0.94253	GAC		TCGA-IB-8126-01A-11D-2396-08	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	0	0	0	5	331	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	0.936516	4	330	0	66	2		0	0	0	0	66	2	-5.345967	1	0	0	0		1	1	2	3	2.017890	0	0.090000	3.970000	0.129187	0.370000	1.400000e-01	0.740000	0.330000	0.403739	0.370000	0	2.300000e-01	5.600000e-01
KIAA1045	23349	broad.mit.edu	37	9	34971580	34971580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:34971580G>T	ENST00000242315.3	+	2	367	c.285G>T	c.(283-285)agG>agT	p.R95S	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045			19			LUSC - Lung squamous cell carcinoma(32;0.00575)		AGTTTGACAGGACAAGTCGAT	0.622000																								0							SO:0001583	missense			ENST00000242315.3	0	1	hg19	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510166	0.27036	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	2.92	0.33932	.	0.366196	0.29046	N	0.013305	T	0.28134	0.0694	L	0.36672	1.1	0.21220	N	0.99976	B	0.19200	0.034	B	0.18561	0.022	T	0.13683	-1.0500	8	.	.	.	-9.928	6.5955	0.22669	0.2802:0.0:0.5903:0.1295	.	95	Q9UPV7	K1045_HUMAN	S	95	.	.	R	+	3	2	KIAA1045	34961580	0.710000	0.27896	0.619000	0.29118	0.132000	0.20833	-0.067000	0.11579	0.885000	0.36088	0.655000	0.94253	AGG		TCGA-IB-8126-01A-11D-2396-08	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	0	0	0	12	1763	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	0.999048	11	1748	0	163	2		0	0	0	0	167	2	-2.804656	1	1	0	0		1						0.090000	3.970000									0	0
TRPM3	80036	broad.mit.edu	37	9	73151119	73151119	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377110.3	-	25	5117	c.4874A>G	c.(4873-4875)aAc>aGc	p.N1625S	TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					AGTGATGTTGTTGGACAGGGT	0.552000																								0							SO:0001583	missense			ENST00000377110.3	1	1	hg19	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534120	0.27475	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.53640	0.66;0.64;0.64;0.61;0.66;0.61;0.64;0.64;0.64;0.65	5.77	4.62	0.57501	.	0.290243	0.39083	N	0.001479	T	0.51126	0.1656	N	0.24115	0.695	0.32672	N	0.516704	B;B;B;B;P;D;B	0.56035	0.318;0.318;0.213;0.378;0.73;0.974;0.213	B;B;B;B;B;D;B	0.67725	0.099;0.141;0.046;0.047;0.281;0.953;0.031	T	0.58194	-0.7679	10	0.25751	T	0.34	-32.5811	13.0652	0.59030	0.0:0.0:0.1343:0.8657	.	1625;1615;1629;1487;1484;1597;1484	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	S	1625;1497;1487;1484;1629;1484;1484;1497;1487;1652	ENSP00000366314:N1625S;ENSP00000366310:N1497S;ENSP00000354066:N1487S;ENSP00000366309:N1484S;ENSP00000350140:N1629S;ENSP00000386127:N1484S;ENSP00000379581:N1484S;ENSP00000379587:N1497S;ENSP00000350791:N1487S;ENSP00000389542:N1652S	ENSP00000350140:N1629S	N	-	2	0	TRPM3	72340939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	0.985000	0.38656	0.533000	0.62120	AAC		TCGA-IB-8126-01A-11D-2396-08	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	0	0	0	97	2227	1	440		0	0	0	1	440	2		0	0	0	0	0	2	1	1.000000	97	2203	1	438	19		0	0	0	1	440	2	-6.187704	1	1	0	0		1	1	2	3	2.012233	0	0.090000	3.970000	0.129187	0.960000	7.800000e-01	1.000000	1.000000	0.947562	0.960000	1	8.700000e-01	1
P2RY8	286530	broad.mit.edu	37	X	1584602	1584602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:1584602G>T	ENST00000381297.4	-	2	1060	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8			23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			CAGTTGTTGAGGCAGCTGAGA	0.587000			T	CRLF2	B-ALL, Downs associated ALL										Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0							SO:0001583	missense			ENST00000381297.4	1	1	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724334	0.30593	.	.	ENSG00000182162	ENST00000381297	T	0.20598	2.06	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.191682	0.34110	U	0.004251	T	0.18551	0.0445	L	0.52759	1.655	0.09310	N	1	B	0.33494	0.414	B	0.38327	0.271	T	0.11275	-1.0594	10	0.23891	T	0.37	.	6.3011	0.21113	0.3491:0.0:0.6509:0.0	.	284	Q86VZ1	P2RY8_HUMAN	I	284	ENSP00000370697:L284I	ENSP00000370697:L284I	L	-	1	0	P2RY8	1544602	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.594000	0.24014	1.007000	0.39238	0.279000	0.19357	CTC		TCGA-IB-8126-01A-11D-2396-08	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	0	0	0	21	551	0	97	0	6.576327e-02	0	11	0	97	2		0	0	0	0	0	2	1	0.999997	20	544	0	96	2		0	0	0	0	97	2	-3.580398	1	1	0	0		1	0	1	1			0.090000	3.970000	0.090000	0.810000	5.200000e-01	1.000000	1.000000	0.817780	0.810000	0	6.500000e-01	1
AKAP4	8852	broad.mit.edu	37	X	49957303	49957303	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:49957303A>G	ENST00000376056.2	-	5	2184	c.2034T>C	c.(2032-2034)agT>agC	p.S678S	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376064.3_Silent_p.S678S					A kinase (PRKA) anchor protein 4			41	Ovarian(276;0.236)				GCTTCATCCCACTGGTACAGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000376056.2	1	1	hg19	CCDS14330.1																																																																																				TCGA-IB-8126-01A-11D-2396-08	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	0	0	0	9	282	1	84		0	0	0	1	84	2		0	0	0	0	0	2	0	0.252370	9	281	1	84	13		0	0	0	1	84	2	-10.280390	1	1	0	0		1	0	1	1			0.090000	3.970000	0.090000	0.700000	3.500000e-01	1.000000	1.000000	0.714435	0.700000	0	5.000000e-01	9.400000e-01
SLC7A3	84889	broad.mit.edu	37	X	70146816	70146816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:70146816C>A	ENST00000374299.3	-	9	1506	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3			31	Renal(35;0.156)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTCAACTTCTCTGATTCAG	0.468000																								0							SO:0001583	missense			ENST00000374299.3	1	1	hg19	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114898	0.20795	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88664	-2.41;-2.41	5.31	2.39	0.29439	.	0.537794	0.13865	U	0.357372	D	0.86301	0.5900	L	0.46157	1.445	0.09310	N	0.999999	B	0.23650	0.089	B	0.35727	0.209	T	0.76189	-0.3050	10	0.44086	T	0.13	.	9.0769	0.36527	0.0:0.7342:0.0:0.2658	.	454	Q8WY07	CTR3_HUMAN	D	454	ENSP00000363417:E454D;ENSP00000298085:E454D	ENSP00000298085:E454D	E	-	3	2	SLC7A3	70063541	0.579000	0.26725	0.881000	0.34555	0.226000	0.24999	0.230000	0.17852	0.158000	0.19367	0.529000	0.55759	GAG		TCGA-IB-8126-01A-11D-2396-08	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	1	0	0	17	313	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	0.999966	17	310	0	68	2		0	0	0	0	68	2	-18.789010	1	1	0	0		1	0	1	1			0.090000	3.970000	0.090000	0.990000	6.900000e-01	1.000000	1.000000	0.961782	0.990000	1	8.900000e-01	1
