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
CCDC147	0	broad.mit.edu	37	10	106207500	106207500	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:106207500C>T	ENST00000369704.3	+	16	2435	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN				52		Colorectal(252;0.103)|Breast(234;0.122)			TCTTGGCCCGCCAGCCTGGAC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000369704.3	0	1	hg19	CCDS31282.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1	1	0	0	29	300	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1.000000	29	284	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.870313	1	0.160000	1.960000	0.111675	0.990000	0.700000	1.000000	1.000000	0.945769	0.990000	1	8.500000e-01	1
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TGGTTTGGGCGTAAGCATGGC	0.463000																								0							SO:0001583	missense			ENST00000368654.3	0	1	hg19	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		TCGA-IB-7888-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	0	9	1605	0	242	0	4.132300e-04	0	5	0	242	2		0	0	0	0	0	2	1	0.993885	10	1587	0	241	2								-2.030090	0	1	121412	29	52	1	0	1	1	1.885195	1	0.160000	1.960000	0.102564	0.060000	0.020000	0.120000	0.070000	0.072004	0.060000	0	4.000000e-02	9.000000e-02
RET	5979	broad.mit.edu	37	10	43596003	43596003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:43596003G>A	ENST00000355710.3	+	2	402	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RET_ENST00000340058.5_Missense_Mutation_p.R57Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATGCCCTGCGGGACGCCCCT	0.622000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	1	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	7.893	0.732679	0.15507	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80566	-1.27;-1.39	5.51	-2.98	0.05513	.	0.511992	0.21682	N	0.070717	T	0.62159	0.2405	N	0.17474	0.49	0.20703	N	0.999866	B;B	0.27656	0.068;0.184	B;B	0.12156	0.003;0.007	T	0.51395	-0.8711	10	0.59425	D	0.04	.	13.0759	0.59087	0.6294:0.0:0.3706:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	Q	57	ENSP00000347942:R57Q;ENSP00000344798:R57Q	ENSP00000344798:R57Q	R	+	2	0	RET	42916009	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	-0.012000	0.12699	-0.533000	0.06323	-1.553000	0.00894	CGG		TCGA-IB-7888-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	0	13	250	0	51	0	2.979146e-03	0	2	0	51	2		0	0	0	0	0	2	1	0.999537	13	247	0	51	2								-3.318794	1	1	121406	1	33	1	0	0	0	1.993230	0	0.160000	1.960000	0.150485	0.610000	0.340000	0.970000	1.000000	0.636909	0.610000	0	4.600000e-01	8.000000e-01
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:108546412G>A	ENST00000322536.3	+	3	466	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000526794.1_Missense_Mutation_p.A113T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	p.A113T(1)		27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)			ACTTGGAGCGGCCAAAACTGG	0.438000			T	NUP98	AML*										Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000322536.3	0	1	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649371	0.96714	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.22539	1.95;1.95	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046541	0.85682	N	0.000000	T	0.53302	0.1788	H	0.95679	3.705	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.51055	0.657;0.657	T	0.67921	-0.5545	10	0.87932	D	0	-4.8073	20.1566	0.98115	0.0:0.0:1.0:0.0	.	113;113	Q13206;E9PIF2	DDX10_HUMAN;.	T	113	ENSP00000314348:A113T;ENSP00000432032:A113T	ENSP00000314348:A113T	A	+	1	0	DDX10	108051622	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	GCC		TCGA-IB-7888-01A-11D-2154-08	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	0	0	0	5	527	0	49	0	7.344143e-03	1	10	0	49	2		0	0	0	0	0	2	1	0.936255	6	522	0	49	2								-1.724912	0	1	0	0		1	0	1	1	2.000262	0	0.160000	1.960000	0.155270	0.120000	0.040000	0.260000	0.120000	0.138238	0.120000	0	7.000000e-02	1.900000e-01
HMBS	3145	broad.mit.edu	37	11	118955763	118955763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:118955763C>T	ENST00000278715.3	+	1	171	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000543090.1_Missense_Mutation_p.A7V|HMBS_ENST00000392841.1_5'Flank|HMBS_ENST00000544387.1_Missense_Mutation_p.A7V	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase			15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			AACGGCAATGCGGCTGCAACG	0.667000																								0							SO:0001583	missense			ENST00000278715.3	0	1	hg19	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004515	0.54254	.	.	ENSG00000256269	ENST00000278715;ENST00000536813;ENST00000546302;ENST00000544387;ENST00000543090	D;D;D;D;D	0.99832	-7.02;-5.71;-6.09;-6.71;-6.91	5.55	-0.207	0.13189	.	0.410282	0.21922	N	0.067144	D	0.97955	0.9327	N	0.22421	0.69	0.18873	N	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	D	0.99023	1.0818	10	0.18276	T	0.48	-1.7114	1.6993	0.02869	0.1664:0.3811:0.2802:0.1723	.	7;7;7	F5H345;G5EA58;P08397	.;.;HEM3_HUMAN	V	7	ENSP00000278715:A7V;ENSP00000438726:A7V;ENSP00000445599:A7V;ENSP00000438424:A7V;ENSP00000445429:A7V	ENSP00000278715:A7V	A	+	2	0	HMBS	118460973	0.037000	0.19845	0.044000	0.18714	0.485000	0.33311	0.342000	0.19926	0.062000	0.16340	0.650000	0.86243	GCG		TCGA-IB-7888-01A-11D-2154-08	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	0	0	0	5	324	0	31	0	2.878254e-02	0	14	0	31	2		0	0	0	0	0	2	1	0.928867	5	307	0	31	2								-3.134256	1	1	0	0		1	0	1	1	2.000262	0	0.160000	1.960000	0.155270	0.200000	0.070000	0.410000	0.190000	0.221602	0.200000	0	1.200000e-01	3.000000e-01
TSPAN18	90139	broad.mit.edu	37	11	44931325	44931325	+	Missense_Mutation	SNP	G	G	A	rs138512957		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:44931325G>A	ENST00000520358.2	+	5	548	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	TSPAN18_ENST00000340160.3_Missense_Mutation_p.V45M			Q96SJ8	TSN18_HUMAN	tetraspanin 18			10					CCGGGAGATCGTGGCTGCCAA	0.697000																								0							SO:0001583	missense			ENST00000520358.2	0	1	hg19	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311265|4.311265	0.81358|0.81358	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000157570|ENSG00000157570	ENST00000518429|ENST00000533786;ENST00000533202;ENST00000520358;ENST00000520999;ENST00000340160;ENST00000520837	.|T;T;T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.0|5.0	3.1|3.1	0.35709|0.35709	.|.	.|0.239380	.|0.41823	.|D	.|0.000806	D|D	0.86049|0.86049	0.5840|0.5840	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.996;0.997	.|D;D	.|0.67548	.|0.952;0.922	D|D	0.85562|0.85562	0.1228|0.1228	5|10	.|0.59425	.|D	.|0.04	.|.	8.9069|8.9069	0.35530|0.35530	0.232:0.0:0.768:0.0|0.232:0.0:0.768:0.0	.|.	.|45;45	.|Q8WUV1;Q96SJ8	.|.;TSN18_HUMAN	H|M	48|45;45;45;55;45;55	.|ENSP00000433592:V45M;ENSP00000434625:V45M;ENSP00000429993:V45M;ENSP00000427942:V55M;ENSP00000339820:V45M;ENSP00000430343:V55M	.|ENSP00000339820:V45M	R|V	+|+	2|1	0|0	TSPAN18|TSPAN18	44887901|44887901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.890000|4.890000	0.63178|0.63178	1.105000|1.105000	0.41606|0.41606	0.561000|0.561000	0.74099|0.74099	CGT|GTG		TCGA-IB-7888-01A-11D-2154-08	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	0	0	0	7	553	0	57	0	2.318911e-02	0	16	0	57	2		0	0	0	0	0	2	1	0.978751	7	538	0	56	2								-5.739786	1	1	121408	3	40	1	1	2	3	2.007403	0	0.160000	1.960000	0.163347	0.160000	0.070000	1.000000	0.160000	0.208268	0.160000	0	1.100000e-01	2.500000e-01
CHST1	8534	broad.mit.edu	37	11	45671352	45671352	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:45671352G>A	ENST00000308064.2	-	4	1792	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1			42					GCTGGCAGGCGTTCTGGGCAA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000308064.2	1	1	hg19	CCDS7913.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	0	0	0	18	459	0	79	0	1.652749e-03	0	2	0	79	2		0	0	0	0	0	2	1	0.999981	18	455	0	79	2								-17.057420	1	1	0	0		1	1	2	3	2.007403	0	0.160000	1.960000	0.163347	0.480000	0.290000	1.000000	0.470000	0.511742	0.480000	0	3.800000e-01	6.200000e-01
OR8K5	219453	broad.mit.edu	37	11	55927158	55927158	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:55927158C>T	ENST00000313447.1	-	1	635	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5			34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)			CTAAGACTATCAGAAAGGAGG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000313447.1	1	1	hg19	CCDS31521.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	1	0	0	20	306	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	0.999995	20	302	0	42	2								-3.075367	1	1	121412	1	32	1	1	2	3	2.007403	0	0.160000	1.960000	0.163347	0.780000	0.490000	1.000000	1.000000	0.788623	0.780000	0	6.200000e-01	9.800000e-01
OR1S1	219959	broad.mit.edu	37	11	57982249	57982249	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:57982249C>T	ENST00000309433.6	+	1	33	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1			48		Breast(21;0.0589)			TTCAGATCGGCAGAAATATGC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000309433.6	0	1	hg19	CCDS31546.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	0	0	0	11	569	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	0.998258	11	563	0	51	2								-3.349171	1	1	0	0		1	1	2	3	2.007403	0	0.160000	1.960000	0.163347	0.240000	0.120000	1.000000	0.240000	0.284717	0.240000	0	1.800000e-01	3.400000e-01
INCENP	3619	broad.mit.edu	37	11	61897787	61897787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:61897787C>T	ENST00000394818.3	+	4	990	c.788C>T	c.(787-789)tCc>tTc	p.S263F	INCENP_ENST00000278849.4_Missense_Mutation_p.S263F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa			19					GCGCAGGTCTCCCCTGGCCCA	0.652000																								0							SO:0001583	missense			ENST00000394818.3	1	1	hg19	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338769	0.41398	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.16597	2.33;2.33	5.3	5.3	0.74995	.	0.412804	0.20464	N	0.091830	T	0.34193	0.0889	L	0.54323	1.7	0.43317	D	0.995338	D;D;P	0.62365	0.991;0.971;0.952	P;P;P	0.60473	0.687;0.875;0.753	T	0.02512	-1.1148	10	0.87932	D	0	.	14.4724	0.67526	0.0:1.0:0.0:0.0	.	263;263;263	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	F	263	ENSP00000378295:S263F;ENSP00000278849:S263F	ENSP00000278849:S263F	S	+	2	0	INCENP	61654363	0.092000	0.21681	0.980000	0.43619	0.238000	0.25445	2.050000	0.41297	2.492000	0.84095	0.462000	0.41574	TCC		TCGA-IB-7888-01A-11D-2154-08	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	1	0	0	39	512	0	66	1	4.520780e-01	5	16	0	66	2		0	0	0	0	0	2	1	1.000000	37	498	0	65	2								-3.142702	1	1	0	0		1	0	1	1	2.000262	0	0.160000	1.960000	0.155270	0.870000	0.630000	1.000000	1.000000	0.872899	0.870000	1	7.500000e-01	1
ZBTB3	79842	broad.mit.edu	37	11	62519604	62519604	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:62519604C>T	ENST00000394807.3	-	2	1808	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3			24					CTTTAGGTGGCCCTCCACCAC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000394807.3	1	1	hg19	CCDS8034.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	1	0	0	20	338	0	49	0	3.535299e-03	0	2	0	49	2		0	0	0	0	0	2	1	0.999995	20	333	0	49	2								-5.638260	1	1	0	0		1	0	1	1	2.000262	0	0.160000	1.960000	0.155270	0.690000	0.440000	1.000000	1.000000	0.711106	0.690000	0	5.500000e-01	8.600000e-01
NOX4	50507	broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:89106611C>T	ENST00000263317.4	-	12	1362	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	NOX4_ENST00000535633.1_Missense_Mutation_p.G351E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	p.G375E(1)		44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)			TGTCCAGTCTCCTACTATTTT	0.279000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000263317.4	0	1	hg19	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057366	0.55325	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;T;T;T;T;T;T;T;T;D;D	0.98012	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-4.05;-4.66	5.12	5.12	0.69794	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.87971	2.92	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.992;0.998;1.0;0.999;1.0	D	0.99505	1.0954	9	.	.	.	-12.7557	15.4797	0.75514	0.0:1.0:0.0:0.0	.	351;209;350;68;68;375;375	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	E	351;351;351;375;375;351;351;351;209;350;396;68;68	ENSP00000412446:G351E;ENSP00000440172:G351E;ENSP00000344747:G351E;ENSP00000436892:G375E;ENSP00000263317:G375E;ENSP00000434924:G351E;ENSP00000433797:G351E;ENSP00000439373:G351E;ENSP00000436093:G209E;ENSP00000436970:G350E;ENSP00000405705:G396E;ENSP00000435039:G68E;ENSP00000365146:G68E	.	G	-	2	0	NOX4	88746259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.382000	0.81193	0.563000	0.77884	GGA		TCGA-IB-7888-01A-11D-2154-08	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	0	0	0	10	804	0	65	0	1.088310e-01	0	41	0	65	2		0	0	0	0	0	2	1	0.996366	10	779	0	64	2								-1.640117	0	1	0	0		1	0	1	1	2.000262	0	0.160000	1.960000	0.155270	0.150000	0.070000	0.270000	0.150000	0.166443	0.150000	0	1.100000e-01	2.100000e-01
DUSP16	80824	broad.mit.edu	37	12	12629995	12629995	+	Silent	SNP	G	G	A	rs145763524		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr12:12629995G>A	ENST00000228862.2	-	7	2401	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16			26		Prostate(47;0.0687)			CTTGGTCTCCGCAAGTGGGCA	0.562000													Ovarian(158;443 1896 15437 36069 46477)											0							SO:0001819	synonymous_variant			ENST00000228862.2	0	1	hg19	CCDS8650.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	0	0	0	8	753	0	85	0	1.940647e-01	0	68	0	85	2		0	0	0	0	0	2	1	0.988935	9	744	0	83	2								-2.488069	0	1	121412	1	39	1	0	1	1	2.001092	0	0.160000	1.960000	0.155270	0.130000	0.060000	0.250000	0.130000	0.145571	0.130000	0	9.000000e-02	1.900000e-01
TPTE2	93492	broad.mit.edu	37	13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			TCGGCAAGGAGGAGAGTGACA	0.294000																								0							SO:0001583	missense			ENST00000400230.2	0	1	hg19	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.671852	0.00104	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	2.33	-2.98	0.05513	.	0.341290	0.24920	N	0.034543	D	0.87853	0.6282	N	0.11064	0.09	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.002	T	0.79778	-0.1660	9	.	.	.	-2.0597	4.2976	0.10910	0.0:0.4631:0.2199:0.317	.	54;91	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	V	91;91;54;54;91;91;91	ENSP00000372438:L91V;ENSP00000383089:L91V;ENSP00000255310:L54V;ENSP00000375098:L54V;ENSP00000372437:L91V;ENSP00000372435:L91V	.	L	-	1	0	TPTE2	18946175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.850000	0.04317	-0.793000	0.04475	-0.718000	0.03613	CTC		TCGA-IB-7888-01A-11D-2154-08	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	6	463	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	0.961525	6	449	0	41	2								-2.146826	0	1	0	0		1	0	1	1	2.005752	0	0.160000	1.960000	0.156627	0.160000	0.060000	0.330000	0.160000	0.182912	0.160000	0	1.100000e-01	2.500000e-01
RCBTB2	1102	broad.mit.edu	37	13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:49070346G>A	ENST00000344532.3	-	14	1919	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A504V|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A225V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2			31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			ATACTTCACCGCAGCCGAGAG	0.478000																								0							SO:0001583	missense			ENST00000344532.3	0	1	hg19	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.412381	0.42817	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;D	0.84800	-1.03;-1.04;-1.9	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	M	0.82323	2.585	0.80722	D	1	P;P;P;P	0.40144	0.514;0.699;0.704;0.699	B;B;B;B	0.36244	0.086;0.22;0.137;0.22	D	0.89133	0.3511	10	0.66056	D	0.02	.	18.7477	0.91800	0.0:0.0:1.0:0.0	.	225;504;451;499	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	499;451;504;504;225	ENSP00000345144:A499V;ENSP00000389910:A504V;ENSP00000443862:A225V	ENSP00000345144:A499V	A	-	2	0	RCBTB2	47968347	1.000000	0.71417	0.192000	0.23308	0.093000	0.18481	9.372000	0.97165	2.499000	0.84300	0.558000	0.71614	GCG		TCGA-IB-7888-01A-11D-2154-08	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	0	0	0	20	391	1	44	1	5.152384e-02	5	22	1	44	4		0	0	0	0	0	2	0	0.174725	20	388	1	43	27								-2.885646	1	1	121386	1	30	1	0	1	1	2.005752	0	0.160000	1.960000	0.156627	0.600000	0.380000	0.880000	0.600000	0.624406	0.600000	0	4.800000e-01	7.500000e-01
TBC1D4	9882	broad.mit.edu	37	13	75886933	75886933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:75886933C>T	ENST00000377636.3	-	13	2670	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R712H|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R767H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4			50		Prostate(6;0.014)|Breast(118;0.0982)			GAGGAAAATGCGCTGCCGCCA	0.522000																								0							SO:0001583	missense			ENST00000377636.3	0	1	hg19	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876178	0.91664	0.0	1.2E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.53	5.53	0.82687	.	0.085211	0.48767	D	0.000171	T	0.64349	0.2590	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	P;D;D	0.65443	0.862;0.91;0.935	T	0.63804	-0.6554	10	0.59425	D	0.04	-12.7168	19.8372	0.96661	0.0:1.0:0.0:0.0	.	712;767;775	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	H	775;767;712;224	ENSP00000366863:R775H;ENSP00000395986:R767H;ENSP00000366852:R712H;ENSP00000396932:R224H	ENSP00000366852:R712H	R	-	2	0	TBC1D4	74784934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.095000	0.64529	2.770000	0.95276	0.655000	0.94253	CGC		TCGA-IB-7888-01A-11D-2154-08	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	0	0	0	6	400	0	42	0	6.299263e-02	0	23	0	42	2		0	0	0	0	0	2	1	0.964437	6	396	0	42	2								-2.560475	1	1	120902	2	36	1	0	1	1	2.005752	0	0.160000	1.960000	0.156627	0.190000	0.070000	0.370000	0.180000	0.210776	0.190000	0	1.200000e-01	2.800000e-01
STRN3	29966	broad.mit.edu	37	14	31376184	31376184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:31376184C>T	ENST00000357479.5	-	14	1983	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D	STRN3_ENST00000355683.5_Missense_Mutation_p.G512D	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3			20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		ATTTTTTATGCCACTATAAGC	0.368000																								0							SO:0001583	missense			ENST00000357479.5	0	1	hg19	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743342	0.89663	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.59502	0.26;0.26	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	N	0.10733	0.035	0.80722	D	1	P;D	0.64830	0.762;0.994	B;D	0.66351	0.343;0.943	T	0.61322	-0.7086	10	0.30854	T	0.27	-5.1717	19.9019	0.96988	0.0:1.0:0.0:0.0	.	512;596	Q13033-2;Q13033	.;STRN3_HUMAN	D	512;596	ENSP00000347909:G512D;ENSP00000350071:G596D	ENSP00000347909:G512D	G	-	2	0	STRN3	30445935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.498000	0.60373	2.706000	0.92434	0.563000	0.77884	GGC		TCGA-IB-7888-01A-11D-2154-08	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	0	0	0	5	461	0	32	0	3.527353e-02	0	22	0	32	2		0	0	0	0	0	2	1	0.936073	5	456	0	31	2								-2.050533	0	1	0	0		1	0	1	1	1.874017	1	0.160000	1.960000	0.113176	0.130000	0.040000	0.280000	0.120000	0.149249	0.130000	0	8.000000e-02	2.100000e-01
ALDH1A3	220	broad.mit.edu	37	15	101438319	101438319	+	Missense_Mutation	SNP	G	G	A	rs147665432		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:101438319G>A	ENST00000329841.5	+	8	1344	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R164Q	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3			27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)	Vitamin A(DB00162)	GCTGCGTCCCGGAGCAATCTG	0.557000																								0							SO:0001583	missense			ENST00000329841.5	1	1	hg19	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886741	0.51908	0.0	3.49E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.15603	2.41	5.76	1.03	0.20045	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.354015	0.32935	N	0.005464	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B;B	0.25521	0.128;0.001	B;B	0.22753	0.041;0.001	T	0.22208	-1.0223	10	0.48119	T	0.1	.	3.9817	0.09498	0.387:0.0:0.4484:0.1646	.	175;271	Q7Z3A2;P47895	.;AL1A3_HUMAN	Q	271;175	ENSP00000332256:R271Q	ENSP00000332256:R271Q	R	+	2	0	ALDH1A3	99255842	0.817000	0.29147	0.003000	0.11579	0.960000	0.62799	2.008000	0.40893	0.296000	0.22592	0.555000	0.69702	CGG		TCGA-IB-7888-01A-11D-2154-08	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2	1	0	0	29	324	0	29	0	9.996826e-01	0	140	0	29	2		0	0	0	0	0	2	1	1.000000	29	321	0	29	2								-2.920853	1	1	121412	9	40	1	0	1	1	1.999187	0	0.160000	1.960000	0.155270	0.990000	0.700000	1.000000	1.000000	0.944883	0.990000	1	8.400000e-01	1
TGM7	116179	broad.mit.edu	37	15	43579655	43579655	+	Splice_Site	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:43579655T>C	ENST00000452443.2	-	6	692	c.688A>G	c.(688-690)Atc>Gtc	p.I230V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7			39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		L-Glutamine(DB00130)	TTGCTGTTGATCTGCAGAGGA	0.597000																								0							SO:0001630	splice_region_variant			ENST00000452443.2	1	0	hg19	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647826	0.47258	.	.	ENSG00000159495	ENST00000452443	D	0.84589	-1.87	5.72	5.72	0.89469	.	0.051682	0.85682	D	0.000000	D	0.85133	0.5627	L	0.28608	0.87	0.39793	D	0.972465	D	0.64830	0.994	D	0.72625	0.978	T	0.80848	-0.1199	10	0.02654	T	1	-28.5987	13.9677	0.64218	0.0:0.0:0.0:1.0	.	230	Q96PF1	TGM7_HUMAN	V	230	ENSP00000389466:I230V	ENSP00000389466:I230V	I	-	1	0	TGM7	41366947	0.998000	0.40836	1.000000	0.80357	0.843000	0.47879	0.496000	0.22499	2.189000	0.69895	0.533000	0.62120	ATC		TCGA-IB-7888-01A-11D-2154-08	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	1	0	0	37	385	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	36	378	0	52	2								-20.000000	1	1	0	0		1	0	1	1	2.000515	0	0.160000	1.960000	0.155270	0.990000	0.780000	1.000000	1.000000	0.972449	0.990000	1	9.200000e-01	1
PYGO1	26108	broad.mit.edu	37	15	55838323	55838323	+	Silent	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:55838323T>C	ENST00000302000.6	-	3	1252	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A	PYGO1_ENST00000563719.1_Silent_p.A386A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1			27					ATACTGCAGATGCTTCTGCAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000302000.6	1	1	hg19	CCDS10155.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	1	0	0	40	495	0	39	0	7.181526e-02	0	6	0	39	2		0	0	0	0	0	2	1	1.000000	40	489	0	38	2								-20.000000	1	1	121412	10	40	1	0	1	1	2.000515	0	0.160000	1.960000	0.155270	0.920000	0.670000	1.000000	1.000000	0.907506	0.920000	1	7.900000e-01	1
KIAA0430	9665	broad.mit.edu	37	16	15728761	15728761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:15728761C>T	ENST00000396368.3	-	4	1065	c.859G>A	c.(859-861)Gct>Act	p.A287T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A109T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A287T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A287T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430			40					CAGACTTTAGCCGCATCGATT	0.418000																								0							SO:0001583	missense			ENST00000396368.3	0	1	hg19	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895972	0.72639	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.42	5.42	0.78866	.	0.211356	0.49916	D	0.000125	T	0.48223	0.1488	L	0.54323	1.7	0.25621	N	0.9864	P;P;P;P	0.48089	0.905;0.817;0.817;0.847	P;B;B;B	0.48654	0.585;0.295;0.295;0.381	T	0.48927	-0.8991	9	0.59425	D	0.04	.	15.1059	0.72322	0.0:0.8589:0.1411:0.0	.	286;287;286;286	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	287;287;286;109;287;287;287	.	ENSP00000315718:A286T	A	-	1	0	KIAA0430	15636262	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.818000	0.48041	2.695000	0.91970	0.655000	0.94253	GCT		TCGA-IB-7888-01A-11D-2154-08	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	0	0	0	8	649	0	73	0	9.480072e-02	0	37	0	73	2		0	0	0	0	0	2	1	0.988951	8	642	0	72	2								-2.666207	1	1	0	0		1	0	1	1	2.005683	0	0.160000	1.960000	0.156627	0.150000	0.070000	0.280000	0.150000	0.168639	0.150000	0	1.000000e-01	2.200000e-01
SLC12A3	6559	broad.mit.edu	37	16	56920970	56920970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56920970G>A	ENST00000563236.1	+	17	2168	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLC12A3_ENST00000262502.5_Missense_Mutation_p.E714K|SLC12A3_ENST00000438926.2_Missense_Mutation_p.E715K|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E714K			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3			50				Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGTCATTGCCGAGGACCTCCG	0.587000																								0							SO:0001583	missense			ENST00000563236.1	1	1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068187	0.55539	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	5.66	0.87406	.	0.281585	0.38058	N	0.001840	T	0.51873	0.1700	N	0.21545	0.675	0.53688	D	0.999976	B;B;B	0.26258	0.145;0.051;0.085	B;B;B	0.21546	0.035;0.007;0.035	T	0.45175	-0.9279	9	0.39692	T	0.17	.	19.7573	0.96299	0.0:0.0:1.0:0.0	.	714;715;715	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	K	714;715	.	ENSP00000262502:E715K	E	+	1	0	SLC12A3	55478471	1.000000	0.71417	0.986000	0.45419	0.557000	0.35523	4.779000	0.62375	2.668000	0.90789	0.551000	0.68910	GAG		TCGA-IB-7888-01A-11D-2154-08	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	0	0	0	22	455	0	54	0	6.952938e-03	0	3	0	54	2		0	0	0	0	0	2	1	0.999999	22	448	0	54	2								-2.747607	1	1	121412	2	31	1	0	0	0	1.991807	0	0.160000	1.960000	0.150485	0.570000	0.360000	0.820000	0.560000	0.586407	0.570000	0	4.600000e-01	7.000000e-01
DNAH9	1770	broad.mit.edu	37	17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:11650990C>T	ENST00000262442.4	+	32	6585	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	p.R2173W(1)		290		Breast(5;0.0122)|all_epithelial(5;0.131)			GATCATGAAACGGCGCCCCGT	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987431	0.74589	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.5	3.52	0.40303	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.385584	0.26638	N	0.023273	T	0.72447	0.3461	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.75221	-0.3394	10	0.87932	D	0	.	8.0598	0.30627	0.1561:0.7625:0.0:0.0814	.	2173	Q9NYC9	DYH9_HUMAN	W	2173;2173;755	ENSP00000262442:R2173W;ENSP00000414874:R2173W	ENSP00000262442:R2173W	R	+	1	2	DNAH9	11591715	1.000000	0.71417	0.881000	0.34555	0.987000	0.75469	2.893000	0.48633	1.096000	0.41439	0.557000	0.71058	CGG		TCGA-IB-7888-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	0	25	425	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	25	417	0	55	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.871319	1	0.160000	1.960000	0.101027	0.640000	0.430000	0.900000	0.640000	0.658160	0.640000	0	5.200000e-01	7.800000e-01
PIGS	94005	broad.mit.edu	37	17	26881272	26881272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:26881272C>T	ENST00000308360.7	-	12	2009	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	PIGS_ENST00000543734.1_Missense_Mutation_p.R484H|UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.R537H|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000484980.1_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S			16	Lung NSC(42;0.00431)				CCAGGACTTGCGGGTCTCCAG	0.547000																								0							SO:0001583	missense			ENST00000308360.7	0	1	hg19	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.499138	0.26861	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.46819	0.86;0.86;0.86	5.25	-1.09	0.09904	.	0.331862	0.33199	N	0.005180	T	0.43567	0.1253	M	0.79123	2.44	0.09310	N	1	B;B	0.14805	0.011;0.009	B;B	0.14578	0.011;0.01	T	0.42766	-0.9432	10	0.48119	T	0.1	-1.8876	8.6723	0.34159	0.0964:0.5151:0.0:0.3886	.	545;537	Q96S52;Q96S52-2	PIGS_HUMAN;.	H	537;545;484	ENSP00000378755:R537H;ENSP00000309430:R545H;ENSP00000438447:R484H	ENSP00000309430:R545H	R	-	2	0	PIGS	23905399	0.394000	0.25246	0.947000	0.38551	0.790000	0.44656	-0.430000	0.06973	-0.251000	0.09542	-1.733000	0.00692	CGC		TCGA-IB-7888-01A-11D-2154-08	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	0	0	0	5	552	0	81	0	3.483103e-01	0	117	0	81	2		0	0	0	0	0	2	1	0.935091	5	543	0	81	2								-1.828400	0	1	121412	156	52	1	1	2	3	2.007269	0	0.160000	1.960000	0.163347	0.120000	0.040000	1.000000	0.110000	0.166374	0.120000	0	7.000000e-02	2.000000e-01
HAP1	9001	broad.mit.edu	37	17	39883349	39883349	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39883349C>T	ENST00000310778.5	-	10	1488	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Silent_p.T416T|HAP1_ENST00000347901.4_Silent_p.T441T|HAP1_ENST00000341193.5_Silent_p.T424T			P54257	HAP1_HUMAN	huntingtin-associated protein 1			21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		TCCTTAGAGACGTTCTGAGCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000310778.5	0	1	hg19																																																																																					TCGA-IB-7888-01A-11D-2154-08	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	0	0	0	4	59	0	10	0	3.637100e-02	0	4	0	10	2		0	0	0	0	0	2	1	0.888797	4	58	0	10	2								-8.658599	1	1	121276	5	34	1	1	2	3	2.007269	0	0.160000	1.960000	0.163347	0.850000	0.290000	1.000000	1.000000	0.792522	0.850000	1	5.200000e-01	1
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*	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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557000		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	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)						SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		TCGA-IB-7888-01A-11D-2154-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	13	266	0	46	1	5.685033e-01	2	37	0	46	2	1	9.999999e-01	89	1229	1	1227	6	1	0.999557	13	265	0	46	2								-4.489831	1	1	0	0		1	0	1	1	1.871319	1	0.160000	1.960000	0.101027	0.540000	0.300000	0.850000	0.520000	0.562971	0.540000	0	4.100000e-01	7.000000e-01
DNAH2	146754	broad.mit.edu	37	17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			CCTTTGACTGGCTCAGCCAAC	0.478000																								0							SO:0001587	stop_gained			ENST00000572933.1	0	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	46	12.308359	0.99656	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1309	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	1739	.	ENSP00000353818:W1739X	W	+	3	0	DNAH2	7621647	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.405000	0.97313	2.569000	0.86673	0.585000	0.79938	TGG		TCGA-IB-7888-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	0	10	1786	0	215	0	4.076339e-05	0	2	0	215	2		0	0	0	0	0	2	1	0.996730	10	1772	0	212	2								-2.444690	0	1	0	0		1	0	1	1	1.871319	1	0.160000	1.960000	0.101027	0.060000	0.020000	0.120000	0.070000	0.071104	0.060000	0	4.000000e-02	9.000000e-02
CILP2	148113	broad.mit.edu	37	19	19655205	19655205	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:19655205G>A	ENST00000291495.5	+	8	1936	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	CILP2_ENST00000586018.1_Silent_p.S623S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2			32					ACCTCACCTCGGCGGCGTCTG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000291495.5	1	1	hg19	CCDS12405.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	1	0	0	42	626	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1.000000	42	613	0	94	2								-3.017761	1	1	0	0		1	0	1	1	2.000492	0	0.160000	1.960000	0.155270	0.770000	0.570000	1.000000	1.000000	0.788764	0.770000	0	6.600000e-01	9.000000e-01
NPHS1	4868	broad.mit.edu	37	19	36322199	36322199	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36322199G>A	ENST00000378910.5	-	26	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	NPHS1_ENST00000353632.6_Splice_Site_p.T1089M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)			74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CCCACTTACCGTGGAGCTCTG	0.607000																								0							SO:0001630	splice_region_variant			ENST00000378910.5	1	0	hg19	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	6.172	0.399943	0.11696	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75154	-0.79;-0.91	5.07	1.79	0.24919	.	0.218040	0.40144	N	0.001180	T	0.57227	0.2039	L	0.29908	0.895	0.23969	N	0.996316	B	0.13145	0.007	B	0.11329	0.006	T	0.41324	-0.9515	10	0.29301	T	0.29	-2.7895	7.28	0.26306	0.2727:0.0:0.7273:0.0	.	1129	O60500	NPHN_HUMAN	M	1129;1089	ENSP00000368190:T1129M;ENSP00000343634:T1089M	ENSP00000343634:T1089M	T	-	2	0	NPHS1	41014039	0.000000	0.05858	0.392000	0.26245	0.023000	0.10783	-0.642000	0.05427	0.336000	0.23639	0.442000	0.29010	ACG		TCGA-IB-7888-01A-11D-2154-08	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	0	30	451	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1.000000	30	449	0	60	2								-7.324553	1	1	121412	2	39	1	0	1	1	2.000492	0	0.160000	1.960000	0.155270	0.770000	0.530000	1.000000	1.000000	0.783806	0.770000	0	6.400000e-01	9.200000e-01
TYROBP	7305	broad.mit.edu	37	19	36398352	36398352	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36398352C>T	ENST00000262629.4	-	3	291	c.225G>A	c.(223-225)gcG>gcA	p.A75A	TYROBP_ENST00000589517.1_Silent_p.A75A|TYROBP_ENST00000424586.3_Silent_p.A64A|TYROBP_ENST00000585901.2_Silent_p.A75A|TYROBP_ENST00000544690.2_Silent_p.A64A	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein			8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		ACTCACCCTCCGCAGCCCCTC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000262629.4	1	1	hg19	CCDS12482.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1	1	0	0	28	539	0	50	0	9.999998e-01	1	475	0	50	2		0	0	0	0	0	2	1	1.000000	27	531	0	48	2								-3.144665	1	1	121408	6	39	1	0	1	1	2.000492	0	0.160000	1.960000	0.155270	0.610000	0.410000	0.850000	0.610000	0.627357	0.610000	0	5.000000e-01	7.400000e-01
AXL	558	broad.mit.edu	37	19	41745081	41745081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41745081A>G	ENST00000301178.4	+	9	1337	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	AXL_ENST00000359092.3_Missense_Mutation_p.I383V|AXL_ENST00000593513.1_Missense_Mutation_p.I115V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase			48					GCTAATGGACATAGGGCTAAG	0.572000																								0							SO:0001583	missense			ENST00000301178.4	1	1	hg19	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	a	1.232	-0.623935	0.03636	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.57107	0.42;0.42	4.31	-2.42	0.06542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.576798	0.16485	N	0.212370	T	0.27489	0.0675	N	0.17312	0.475	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31888	-0.9927	10	0.05959	T	0.93	-1.1005	11.2374	0.48949	0.2549:0.0:0.7451:0.0	.	383;383	P30530-2;P30530	.;UFO_HUMAN	V	383	ENSP00000301178:I383V;ENSP00000351995:I383V	ENSP00000301178:I383V	I	+	1	0	AXL	46436921	0.002000	0.14202	0.135000	0.22099	0.952000	0.60782	-0.610000	0.05629	-0.465000	0.06953	0.317000	0.21355	ATA		TCGA-IB-7888-01A-11D-2154-08	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	0	20	274	0	32	0	9.415436e-01	0	68	0	32	2		0	0	0	0	0	2	1	0.999995	20	270	0	32	2								-19.999980	1	1	0	0		1	1	2	3	2.007548	0	0.160000	1.960000	0.166005	0.870000	0.550000	1.000000	1.000000	0.858844	0.870000	1	6.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42873053	42873053	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:42873053C>T	ENST00000251268.6	+	37	6540	c.6540C>T	c.(6538-6540)gaC>gaT	p.D2180D	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.D2113D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CCCCTGAGGACGAGTGTGCAA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000251268.6	1	1	hg19																																																																																					TCGA-IB-7888-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	0	31	462	0	58	0	1.125161e-01	0	9	0	58	2		0	0	0	0	0	2	1	1.000000	31	457	0	58	2								-3.221907	1	1	121408	12	41	1	1	2	3	2.007548	0	0.160000	1.960000	0.166005	0.800000	0.550000	1.000000	1.000000	0.813853	0.800000	0	6.700000e-01	9.900000e-01
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155			15		Prostate(69;0.0352)			TGAGGAGGAGCTGGGGCTGCT	0.532000													NSCLC(61;554 1277 20909 42067 42312)											0							SO:0001583	missense			ENST00000270014.2	1	1	hg19	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356298	0.41700	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.01787	4.64;4.64	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	M	0.68317	2.08	0.23546	N	0.997442	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	T	0.30475	-0.9977	9	0.87932	D	0	.	3.5586	0.07873	0.0:0.6202:0.0:0.3798	.	33;22	B4DM95;Q12901	.;ZN155_HUMAN	V	33;22	ENSP00000385163:L33V;ENSP00000270014:L22V	ENSP00000270014:L22V	L	+	1	2	ZNF155	49187588	0.980000	0.34600	1.000000	0.80357	0.940000	0.58332	-0.002000	0.12924	1.202000	0.43218	0.462000	0.41574	CTG		TCGA-IB-7888-01A-11D-2154-08	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	0	0	0	44	1272	0	167	0	1.620949e-02	1	5	0	167	2		0	0	0	0	0	2	1	1.000000	42	1249	0	165	2								-2.880287	1	1	121412	2	31	1	0	1	1	2.005789	0	0.160000	1.960000	0.156627	0.410000	0.300000	0.540000	0.410000	0.423340	0.410000	0	3.500000e-01	4.800000e-01
CD33	945	broad.mit.edu	37	19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	rs138300409	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:51728620C>T	ENST00000262262.4	+	2	205	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R62W	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule			24		all_neural(266;0.0199)		Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537000																								0							SO:0001583	missense			ENST00000262262.4	1	1	hg19	CCDS33084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.98	2.398956	0.42512	0.002724	0.0	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.70986	-0.53;-0.53	3.49	2.41	0.29592	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.872790	0.03872	N	0.275685	T	0.78641	0.4315	M	0.84433	2.695	0.34210	D	0.674215	P;P	0.52061	0.95;0.908	B;P	0.47162	0.32;0.54	T	0.71424	-0.4597	10	0.59425	D	0.04	.	8.0281	0.30448	0.2431:0.7569:0.0:0.0	.	62;62	F8WAL2;P20138	.;CD33_HUMAN	W	62	ENSP00000262262:R62W;ENSP00000375673:R62W	ENSP00000262262:R62W	R	+	1	2	CD33	56420432	0.000000	0.05858	0.293000	0.24932	0.544000	0.35116	-0.589000	0.05767	0.778000	0.33520	0.655000	0.94253	CGG		TCGA-IB-7888-01A-11D-2154-08	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	0	53	594	0	60	0	2.000260e-01	0	10	0	60	2		0	0	0	0	0	2	1	1.000000	52	585	0	60	2								-2.774725	1	1	121412	34	48	1	0	1	1	2.005789	0	0.160000	1.960000	0.156627	0.990000	0.770000	1.000000	1.000000	0.959666	0.990000	1	8.800000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52825191	52825191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:52825191C>T	ENST00000595962.1	+	5	754	c.688C>T	c.(688-690)Cct>Tct	p.P230S	ZNF480_ENST00000334564.7_Missense_Mutation_p.P187S|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.P153S	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TGTAGAGAAACCTTACAAATG	0.358000																								0							SO:0001583	missense			ENST00000595962.1	1	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385181	0.25031	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28454	1.61;1.61;1.61	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25791	0.0628	L	0.49640	1.575	0.24874	N	0.992269	B;B	0.28552	0.215;0.097	B;B	0.23852	0.049;0.026	T	0.22138	-1.0225	9	0.66056	D	0.02	.	7.3747	0.26821	0.0:1.0:0.0:0.0	.	187;230	F8WEZ9;Q8WV37	.;ZN480_HUMAN	S	230;187;153	ENSP00000417424:P230S;ENSP00000334164:P187S;ENSP00000335670:P153S	ENSP00000334164:P187S	P	+	1	0	ZNF480	57517003	0.000000	0.05858	0.041000	0.18516	0.050000	0.14768	0.441000	0.21611	1.080000	0.41073	0.467000	0.42956	CCT		TCGA-IB-7888-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	0	24	347	0	51	0	4.659431e-03	0	2	0	51	2	0	0	0	1	0	0	2	1	1.000000	24	342	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.034393	0	0.160000	1.960000	0.169304	0.840000	0.540000	1.000000	1.000000	0.840870	0.840000	0	6.800000e-01	1
ZNF578	147660	broad.mit.edu	37	19	53015104	53015104	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53015104G>C	ENST00000421239.2	+	6	1714	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578								AGTGTCACAAGACCTTCAGTC	0.393000																								0							SO:0001583	missense			ENST00000421239.2	0	1	hg19	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	11.14	1.552309	0.27739	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.54	0.276	0.15663	.	.	.	.	.	T	0.64438	0.2598	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.52208	-0.8606	7	.	.	.	.	3.0654	0.06213	0.1691:0.0:0.5654:0.2655	.	490	G3V4F6	.	N	490	.	.	K	+	3	2	ZNF578	57706916	0.001000	0.12720	0.000000	0.03702	0.074000	0.17049	-0.210000	0.09345	-0.031000	0.13781	0.306000	0.20318	AAG		TCGA-IB-7888-01A-11D-2154-08	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	0	0	0	9	498	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	0.994088	9	494	0	60	2								-7.785121	1	1	0	0		1	1	2	3	2.034393	0	0.160000	1.960000	0.169304	0.240000	0.110000	1.000000	0.220000	0.330088	0.240000	0	1.600000e-01	3.800000e-01
VN1R4	317703	broad.mit.edu	37	19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4			22					GTTCACCAGTAAACTATTGGG	0.453000										HNSCC(26;0.072)														0							SO:0001583	missense			ENST00000311170.4	1	1	hg19	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	7.798	0.713095	0.15306	.	.	ENSG00000228567	ENST00000311170	T	0.09723	2.95	2.28	-2.0	0.07433	GPCR, rhodopsin-like superfamily (1);	1.998760	0.03487	N	0.216036	T	0.14787	0.0357	M	0.66939	2.045	0.09310	N	1	P	0.34724	0.465	B	0.38458	0.274	T	0.31971	-0.9924	10	0.62326	D	0.03	.	4.3774	0.11277	0.4545:0.3629:0.0:0.1826	.	265	Q7Z5H5	VN1R4_HUMAN	S	265	ENSP00000310856:L265S	ENSP00000310856:L265S	L	-	2	0	VN1R4	58461937	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.932000	0.01554	-0.543000	0.06240	0.445000	0.29226	TTA		TCGA-IB-7888-01A-11D-2154-08	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	0	0	0	11	303	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.998261	10	299	0	35	2								-3.073324	1	1	121412	12	18	1	1	2	3	2.034393	0	0.160000	1.960000	0.169304	0.470000	0.240000	1.000000	0.440000	0.531349	0.470000	0	3.400000e-01	7.000000e-01
OR7D4	125958	broad.mit.edu	37	19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	rs112089905		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:9325369C>T	ENST00000308682.2	-	1	173	c.145G>A	c.(145-147)Gtc>Atc	p.V49I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					TCAGAGCTGACGGCCAGAATG	0.552000																								0							SO:0001583	missense			ENST00000308682.2	0	1	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.485647	0.01018	.	.	ENSG00000174667	ENST00000308682	T	0.01422	4.91	4.0	-3.92	0.04155	GPCR, rhodopsin-like superfamily (1);	0.997135	0.08123	N	0.994431	T	0.00637	0.0021	N	0.02802	-0.49	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.46884	-0.9159	10	0.06625	T	0.88	.	7.4819	0.27411	0.0:0.4152:0.1191:0.4657	.	49	Q8NG98	OR7D4_HUMAN	I	49	ENSP00000310488:V49I	ENSP00000310488:V49I	V	-	1	0	OR7D4	9186369	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-3.502000	0.00449	-1.075000	0.03129	-0.441000	0.05720	GTC		TCGA-IB-7888-01A-11D-2154-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0	0	0	7	618	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.980242	7	614	0	80	2								-2.597637	1	1	121412	4	40	1	1	2	3	2.008981	0	0.160000	1.960000	0.164013	0.150000	0.060000	1.000000	0.140000	0.198449	0.150000	0	1.000000e-01	2.300000e-01
SCNN1D	6339	broad.mit.edu	37	1	1225872	1225872	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:1225872G>A	ENST00000338555.2	+	11	2448	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	SCNN1D_ENST00000379116.5_Missense_Mutation_p.R599H|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R501H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R435H			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Amiloride(DB00594)|Triamterene(DB00384)	TGCTTCTACCGCCTCTACCAG	0.667000																								0							SO:0001583	missense			ENST00000338555.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.04	1.522663	0.27211	0.0	1.16E-4	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.05	-0.816	0.10839	.	1.672600	0.03725	N	0.252521	T	0.50820	0.1638	L	0.34521	1.04	0.19300	N	0.999974	P;P;P	0.47350	0.894;0.869;0.456	B;B;B	0.40565	0.273;0.333;0.018	T	0.49995	-0.8879	10	0.52906	T	0.07	.	7.7318	0.28791	0.5569:0.0:0.4431:0.0	.	257;435;599	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	H	466;599;435;501;435	ENSP00000368411:R599H;ENSP00000339504:R435H;ENSP00000321594:R501H;ENSP00000383717:R435H	ENSP00000321594:R501H	R	+	2	0	SCNN1D	1215735	0.000000	0.05858	0.745000	0.31077	0.243000	0.25628	-0.215000	0.09279	-0.054000	0.13266	-0.350000	0.07774	CGC		TCGA-IB-7888-01A-11D-2154-08	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	0	0	0	7	634	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	0.967663	7	545	0	92	2								-2.715278	1	1	120860	29	46	1	1	2	3	2.027057	0	0.160000	1.960000	0.167328	0.150000	0.060000	1.000000	0.140000	0.230713	0.150000	0	9.000000e-02	2.400000e-01
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			TTTTTGACAACGGAAGAGGAC	0.562000																								0							SO:0001583	missense			ENST00000373381.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753862	0.49362	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.33	3.45	0.39498	Complement control module (2);Sushi/SCR/CCP (3);	0.324034	0.31010	N	0.008421	T	0.57140	0.2033	N	0.12961	0.28	0.80722	D	1	B;D	0.59357	0.014;0.985	B;D	0.65323	0.015;0.934	T	0.51411	-0.8709	10	0.20046	T	0.44	.	9.63	0.39774	0.0:0.7703:0.0:0.2297	.	3157;3301	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3301	ENSP00000362479:R3301H	ENSP00000241312:R3157H	R	-	2	0	CSMD2	33772072	0.958000	0.32768	0.903000	0.35520	0.527000	0.34593	1.098000	0.31000	1.248000	0.43934	0.591000	0.81541	CGT		TCGA-IB-7888-01A-11D-2154-08	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	17	218	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.999965	17	214	0	29	2								-19.981070	1	1	121412	8	36	1	0	1	1	2.003071	0	0.160000	1.960000	0.155949	0.900000	0.550000	1.000000	1.000000	0.871378	0.900000	1	7.100000e-01	1
GRIK3	2899	broad.mit.edu	37	1	37282815	37282815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:37282815G>A	ENST00000373091.3	-	13	1953	c.1937C>T	c.(1936-1938)aCg>aTg	p.T646M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T646M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3			89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			GATGATGAGCGTGAAGAACCA	0.547000																								0							SO:0001583	missense			ENST00000373091.3	1	1	hg19	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021642	0.93462	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.97455	-4.39;-4.39	5.74	5.74	0.90152	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	646;646	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	646	ENSP00000362183:T646M;ENSP00000362185:T646M	ENSP00000362183:T646M	T	-	2	0	GRIK3	37055402	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	ACG		TCGA-IB-7888-01A-11D-2154-08	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	0	31	463	0	61	0	4.232465e-03	0	2	0	61	2		0	0	0	0	0	2	1	1.000000	30	460	0	61	2								-7.096011	1	1	0	0		1	0	1	1	2.003071	0	0.160000	1.960000	0.155949	0.780000	0.540000	1.000000	1.000000	0.788689	0.780000	0	6.500000e-01	9.200000e-01
PTBP2	58155	broad.mit.edu	37	1	97250690	97250690	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:97250690G>C	ENST00000426398.2	+	8	827	c.784G>C	c.(784-786)Gta>Cta	p.V262L	PTBP2_ENST00000370198.1_Missense_Mutation_p.V262L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.V231L|PTBP2_ENST00000609116.1_Missense_Mutation_p.V262L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V262L|PTBP2_ENST00000394184.3_Missense_Mutation_p.V273L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2			26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)			GAATTTGAATGTAAAATACAA	0.388000																								0							SO:0001583	missense			ENST00000426398.2	1	1	hg19	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652675	0.67472	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.83837	0.25;0.29;0.3;0.25;0.29;-1.77	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.81341	2.54	0.80722	D	1	B;B;P;B;B;B	0.34800	0.06;0.339;0.469;0.006;0.004;0.046	B;P;P;B;B;B	0.59115	0.18;0.716;0.852;0.118;0.227;0.235	D	0.90767	0.4669	10	0.87932	D	0	.	19.5464	0.95299	0.0:0.0:1.0:0.0	.	270;273;262;262;262;262	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	L	262;262;262;262;273;231;252	ENSP00000236228:V262L;ENSP00000359217:V262L;ENSP00000359216:V262L;ENSP00000412788:V262L;ENSP00000377738:V273L;ENSP00000442475:V231L	ENSP00000236228:V262L	V	+	1	0	PTBP2	97023278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.629000	0.89072	0.591000	0.81541	GTA		TCGA-IB-7888-01A-11D-2154-08	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1	1	0	0	24	435	0	55	0	6.763151e-02	1	7	0	55	2		0	0	0	0	0	2	1	1.000000	24	431	0	55	2								-5.277491	1	1	0	0		1	0	1	1	2.003071	0	0.160000	1.960000	0.155949	0.650000	0.430000	0.920000	0.640000	0.666091	0.650000	0	5.300000e-01	7.900000e-01
RALGAPA2	57186	broad.mit.edu	37	20	20493321	20493321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:20493321A>C	ENST00000202677.7	-	32	4699	c.4692T>G	c.(4690-4692)atT>atG	p.I1564M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)			54					TTTGGCGCAAAATGACCTCAA	0.473000																								0							SO:0001583	missense			ENST00000202677.7	1	1	hg19	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.96|12.96	2.094340|2.094340	0.36952|0.36952	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.93953	.|-3.32	5.97|5.97	-2.19|-2.19	0.07015|0.07015	.|.	.|0.185757	.|0.47093	.|D	.|0.000246	D|D	0.92967|0.92967	0.7762|0.7762	M|M	0.84326|0.84326	2.69|2.69	0.23150|0.23150	N|N	0.998215|0.998215	.|P;P;P	.|0.52463	.|0.745;0.953;0.852	.|B;P;P	.|0.54924	.|0.41;0.737;0.764	D|D	0.85470|0.85470	0.1172|0.1172	5|9	.|.	.|.	.|.	.|.	0.7294|0.7294	0.00955|0.00955	0.3729:0.2028:0.2455:0.1788|0.3729:0.2028:0.2455:0.1788	.|.	.|1402;1564;1564	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	C|M	1381|1564	.|ENSP00000202677:I1564M	.|.	F|I	-|-	2|3	0|3	RALGAPA2|RALGAPA2	20441321|20441321	0.025000|0.025000	0.19082|0.19082	0.786000|0.786000	0.31890|0.31890	0.938000|0.938000	0.57974|0.57974	-0.042000|-0.042000	0.12063|0.12063	-0.312000|-0.312000	0.08741|0.08741	0.459000|0.459000	0.35465|0.35465	TTT|ATT		TCGA-IB-7888-01A-11D-2154-08	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	1	0	1	21	345	0	29	1	5.994290e-01	8	26	0	29	2		0	0	0	0	0	2	1	0.999998	22	342	0	29	2								-19.999920	1	1	0	0		1	1	2	3	2.007114	0	0.160000	1.960000	0.163347	0.730000	0.460000	1.000000	1.000000	0.745524	0.730000	0	5.800000e-01	9.200000e-01
ZCCHC3	85364	broad.mit.edu	37	20	279077	279077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:279077C>T	ENST00000382352.3	+	1	1341	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3			8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)		GCTGGCCGTGCCGGTGAAAGT	0.627000																								0							SO:0001583	missense			ENST00000382352.3	0	1	hg19	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003893	0.54254	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	5.2	0.72013	.	0.169587	0.37304	N	0.002143	T	0.49575	0.1565	N	0.11560	0.145	0.36834	D	0.887039	D	0.76494	0.999	D	0.66716	0.946	T	0.58346	-0.7652	9	0.52906	T	0.07	-21.2771	9.6167	0.39696	0.0:0.9079:0.0:0.0921	.	284	Q9NUD5	ZCHC3_HUMAN	S	284	.	ENSP00000371789:P284S	P	+	1	0	ZCCHC3	227077	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.058000	0.41374	2.707000	0.92482	0.555000	0.69702	CCG		TCGA-IB-7888-01A-11D-2154-08	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1	0	0	0	6	572	0	59	0	5.782568e-02	0	31	0	59	2		0	0	0	0	0	2	1	0.963188	6	562	0	59	2								-2.079961	0	1	0	0		1	1	2	3	2.007114	0	0.160000	1.960000	0.163347	0.140000	0.050000	1.000000	0.130000	0.182398	0.140000	0	9.000000e-02	2.200000e-01
KCNB1	3745	broad.mit.edu	37	20	47990860	47990860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:47990860C>T	ENST00000371741.4	-	2	1403	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1			53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Dalfampridine(DB06637)	AAGTTATTGACGATGATGGGG	0.507000																								0							SO:0001583	missense			ENST00000371741.4	1	1	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910860	0.72983	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97620	-4.46	6.07	6.07	0.98685	.	0.132027	0.49305	D	0.000146	D	0.98388	0.9464	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98623	1.0668	10	0.62326	D	0.03	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	413	Q14721	KCNB1_HUMAN	I	413;368	ENSP00000360806:V413I	ENSP00000360806:V413I	V	-	1	0	KCNB1	47424267	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GTC		TCGA-IB-7888-01A-11D-2154-08	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	0	0	0	17	467	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	0.999965	17	465	0	63	2								-3.817906	1	1	0	0		1	1	2	3	2.007114	0	0.160000	1.960000	0.163347	0.450000	0.270000	1.000000	0.440000	0.480415	0.450000	0	3.500000e-01	5.800000e-01
ZNF70	7621	broad.mit.edu	37	22	24086567	24086567	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:24086567C>G	ENST00000341976.3	-	2	1221	c.761G>C	c.(760-762)tGt>tCt	p.C254S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70			21					ACATTCCTTACACTGATAAGG	0.512000																								0							SO:0001583	missense			ENST00000341976.3	1	1	hg19	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836062	0.71373	.	.	ENSG00000187792	ENST00000341976	D	0.85171	-1.95	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94248	0.8153	H	0.95884	3.735	0.42002	D	0.990899	D	0.89917	1.0	D	0.97110	1.0	D	0.95533	0.8605	9	0.87932	D	0	-14.9537	13.0199	0.58779	0.0:1.0:0.0:0.0	.	254	Q9UC06	ZNF70_HUMAN	S	254	ENSP00000339314:C254S	ENSP00000339314:C254S	C	-	2	0	ZNF70	22416567	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.099000	0.76981	2.175000	0.68902	0.456000	0.33151	TGT		TCGA-IB-7888-01A-11D-2154-08	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	1	0	0	20	360	0	26	0	3.141319e-03	0	2	0	26	2		0	0	0	0	0	2	1	0.999996	21	358	0	26	2								-19.985140	1	1	0	0		1						0.160000	1.960000									0	0
HOXD1	3231	broad.mit.edu	37	2	177054575	177054575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:177054575C>T	ENST00000331462.4	+	2	915	c.692C>T	c.(691-693)gCg>gTg	p.A231V	HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1			10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)		CCCTCCAGCGCGATCCGCACG	0.557000																								0							SO:0001583	missense			ENST00000331462.4	0	1	hg19	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934471	0.73442	.	.	ENSG00000128645	ENST00000331462	D	0.95656	-3.77	5.45	4.56	0.56223	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.288296	0.25122	N	0.032971	D	0.91676	0.7369	L	0.46157	1.445	0.43342	D	0.99539	P;B	0.44006	0.824;0.209	B;B	0.32465	0.146;0.073	D	0.90160	0.4227	10	0.33940	T	0.23	.	15.8297	0.78741	0.0:0.8637:0.1363:0.0	.	231;231	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	V	231	ENSP00000328598:A231V	ENSP00000328598:A231V	A	+	2	0	HOXD1	176762821	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	6.063000	0.71162	1.273000	0.44346	0.655000	0.94253	GCG		TCGA-IB-7888-01A-11D-2154-08	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2	0	0	0	15	980	0	106	0	8.054221e-04	0	3	0	106	2		0	0	0	0	0	2	1	0.999847	15	961	0	105	2								-2.967410	1	1	121412	1	33	1	1	2	3	2.011184	0	0.160000	1.960000	0.164013	0.190000	0.100000	1.000000	0.190000	0.238081	0.190000	0	1.400000e-01	2.600000e-01
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					CCCCAGGCCCGCTCAGCAGGG	0.627000																								0							SO:0001583	missense			ENST00000264972.5	0	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206886	0.79127	0.0	1.16E-4	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83250	-1.7;-1.7;-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.80839	0.4700	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	P;D	0.62955	0.864;0.909	T	0.75371	-0.3341	10	0.15952	T	0.53	.	10.1268	0.42654	0.0915:0.0:0.9085:0.0	.	370;496	P43403-3;P43403	.;ZAP70_HUMAN	H	496;370;189	ENSP00000264972:R496H;ENSP00000411141:R370H;ENSP00000400475:R189H	ENSP00000264972:R496H	R	+	2	0	ZAP70	97720656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.334000	0.72944	2.610000	0.88304	0.655000	0.94253	CGC		TCGA-IB-7888-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	0	0	0	6	787	0	94	0	1.762158e-02	0	22	0	94	2		0	0	0	0	0	2	1	0.962626	6	770	0	91	2								-2.317295	0	1	121412	1	28	1	0	1	1	1.892716	1	0.160000	1.960000	0.119866	0.090000	0.030000	0.190000	0.090000	0.104071	0.090000	0	6.000000e-02	1.400000e-01
MUC4	4585	broad.mit.edu	37	3	195515980	195515980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:195515980G>T	ENST00000463781.3	-	2	2930	c.2471C>A	c.(2470-2472)tCa>tAa	p.S824*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.S824*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		CGTCTCTCCTGAGGTGGATAT	0.577000																								0							SO:0001587	stop_gained			ENST00000463781.3	0	1	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	37	6.249658	0.97412	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	3.5	1.63	0.23807	.	2.354170	0.02108	N	0.054574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5202	5.4797	0.16717	0.1201:0.2045:0.6753:0.0	.	.	.	.	X	824;824;798	.	ENSP00000376209:S798X	S	-	2	0	MUC4	197000375	0.027000	0.19231	0.000000	0.03702	0.004000	0.04260	3.437000	0.52863	0.260000	0.21731	0.627000	0.83407	TCA		TCGA-IB-7888-01A-11D-2154-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	0	41	473	0	48	0	5.692764e-02	1	4	0	48	2		0	0	0	0	0	2	1	1.000000	41	466	0	48	2								-3.142702	1	1	0	0		1	0	1	1	2.003901	0	0.160000	1.960000	0.155949	0.980000	0.720000	1.000000	1.000000	0.942069	0.980000	1	8.400000e-01	1
CACNA2D3	55799	broad.mit.edu	37	3	54798357	54798357	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:54798357C>T	ENST00000474759.1	+	13	1407	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	CACNA2D3_ENST00000490478.1_Silent_p.T359T|CACNA2D3_ENST00000415676.2_Silent_p.T453T|CACNA2D3_ENST00000288197.5_Silent_p.T453T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3			59				Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGGTGTGGACCGAAGCTTACA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000474759.1	1	1	hg19	CCDS54598.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	0	30	433	0	56	0	1.308691e-02	0	3	0	56	2		0	0	0	0	0	2	1	1.000000	30	430	0	56	2								-2.429504	0	1	120972	1	35	1	0	1	1	2.003901	0	0.160000	1.960000	0.155949	0.800000	0.550000	1.000000	1.000000	0.811147	0.800000	0	6.700000e-01	9.600000e-01
C4orf21	0	broad.mit.edu	37	4	113460845	113460845	+	Splice_Site	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:113460845C>T	ENST00000505019.1	-	28	6298	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN				45		Ovarian(17;0.156)			ATCTTCCCTTCCTTAAAAAAA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000505019.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.33	2.504359	0.44558	.	.	ENSG00000138658	ENST00000505019	D	0.81659	-1.52	5.37	5.37	0.77165	.	0.229935	0.38436	N	0.001681	T	0.70850	0.3271	L	0.34521	1.04	0.80722	D	1	B;B	0.33637	0.42;0.016	B;B	0.35240	0.198;0.008	T	0.66763	-0.5841	10	0.21540	T	0.41	-21.145	12.0989	0.53772	0.0:0.9203:0.0:0.0797	.	2058;516	G5EA02;B3KQX2	.;.	E	2058	ENSP00000424737:G2058E	ENSP00000424737:G2058E	G	-	2	0	C4orf21	113680294	0.955000	0.32602	0.986000	0.45419	0.904000	0.53231	0.837000	0.27558	2.678000	0.91216	0.555000	0.69702	GGA		TCGA-IB-7888-01A-11D-2154-08	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	0	0	0	11	109	0	16	0	2.222264e-01	0	9	0	16	2		0	0	0	0	0	2	1	0.998525	11	108	0	16	2								-6.664263	1	1	0	0		1	1	2	3	2.007896	0	0.160000	1.960000	0.163347	0.990000	0.620000	1.000000	1.000000	0.950493	0.990000	1	8.600000e-01	1
TLL1	7092	broad.mit.edu	37	4	166978413	166978413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:166978413G>A	ENST00000061240.2	+	14	2445	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	TLL1_ENST00000507499.1_Missense_Mutation_p.A623T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1			77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)			TTACCAGTGTGCCTGTGAGCC	0.512000																								0							SO:0001583	missense			ENST00000061240.2	0	1	hg19	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296332	0.40594	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.97016	-4.21;-4.21	5.96	1.33	0.21861	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.201206	0.42172	N	0.000746	D	0.90683	0.7077	N	0.04669	-0.19	0.50813	D	0.99989	B;P	0.42584	0.088;0.784	B;P	0.51657	0.054;0.676	D	0.83697	0.0180	10	0.20519	T	0.43	.	6.019	0.19618	0.1836:0.0:0.5477:0.2687	.	623;600	E9PD25;O43897	.;TLL1_HUMAN	T	600;623	ENSP00000061240:A600T;ENSP00000426082:A623T	ENSP00000061240:A600T	A	+	1	0	TLL1	167197863	0.980000	0.34600	0.005000	0.12908	0.779000	0.44077	2.781000	0.47750	-0.066000	0.12998	-0.143000	0.13931	GCC		TCGA-IB-7888-01A-11D-2154-08	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1	0	0	0	6	462	0	42	0	2.424630e-03	0	5	0	42	2		0	0	0	0	0	2	1	0.964492	6	459	0	42	2								-5.501510	1	1	0	0		1	1	2	3	2.007896	0	0.160000	1.960000	0.163347	0.170000	0.060000	1.000000	0.160000	0.215827	0.170000	0	1.100000e-01	2.700000e-01
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)			135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)	Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428000			Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)					Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0							SO:0001819	synonymous_variant			ENST00000263923.4	1	1	hg19	CCDS3497.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1	1	0	0	36	448	0	58	0	8.836514e-01	0	49	0	58	2		0	0	0	0	0	2	1	1.000000	36	443	0	58	2								-2.578431	1	1	121412	9	40	1	1	2	3	2.007896	0	0.160000	1.960000	0.163347	0.940000	0.670000	1.000000	1.000000	0.911841	0.940000	1	7.900000e-01	1
SLC6A19	340024	broad.mit.edu	37	5	1208876	1208876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:1208876C>T	ENST00000304460.10	+	2	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19			44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		TTCATGATCCCGTTCCTCATC	0.657000																								0							SO:0001583	missense			ENST00000304460.10	1	1	hg19	CCDS34130.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.6	4.754281	0.89843	0.0	1.16E-4	ENSG00000174358	ENST00000304460	D	0.86865	-2.18	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96314	0.9231	10	0.72032	D	0.01	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	73	Q695T7	S6A19_HUMAN	L	73	ENSP00000305302:P73L	ENSP00000305302:P73L	P	+	2	0	SLC6A19	1261876	1.000000	0.71417	0.919000	0.36401	0.935000	0.57460	5.849000	0.69465	2.091000	0.63221	0.485000	0.47835	CCG		TCGA-IB-7888-01A-11D-2154-08	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	1	0	0	54	658	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	54	652	0	70	2								-2.287385	0	1	121408	12	44	1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.930000	0.710000	1.000000	1.000000	0.921879	0.930000	1	8.200000e-01	1
PCDHGA8	9708	broad.mit.edu	37	5	140774356	140774356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140774356C>T	ENST00000398604.2	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8			51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCACTGTCACGCTCACCGTA	0.642000																								0							SO:0001583	missense			ENST00000398604.2	1	1	hg19	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270078	0.23221	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	4.99	0.815	0.18763	Cadherin (4);Cadherin-like (1);	0.284430	0.17574	U	0.169343	T	0.64260	0.2582	M	0.77103	2.36	0.09310	N	0.999997	D;D	0.71674	0.974;0.998	P;P	0.58820	0.656;0.846	T	0.56123	-0.8031	10	0.72032	D	0.01	.	8.7668	0.34708	0.0:0.6668:0.1188:0.2144	.	659;659	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	659	ENSP00000381605:T659M	ENSP00000381605:T659M	T	+	2	0	PCDHGA8	140754540	0.000000	0.05858	0.009000	0.14445	0.315000	0.28087	0.251000	0.18257	0.182000	0.20032	-0.156000	0.13503	ACG		TCGA-IB-7888-01A-11D-2154-08	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	1	0	0	21	354	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.999992	18	315	0	37	2								-19.999590	1	1	0	0		1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.690000	0.440000	1.000000	1.000000	0.712766	0.690000	0	5.600000e-01	8.600000e-01
PCDHGB7	56099	broad.mit.edu	37	5	140797472	140797472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140797472G>A	ENST00000398594.2	+	1	46	c.46G>A	c.(46-48)Gta>Ata	p.V16I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		cccgcggcAGGTACTATTTCC	0.642000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000398594.2	0	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	16.24	3.066765	0.55539	.	.	ENSG00000254122	ENST00000398594	T	0.49432	0.78	5.92	5.92	0.95590	.	0.310523	0.16999	U	0.190963	T	0.44644	0.1303	N	0.08118	0	0.22199	N	0.999295	P;P	0.50617	0.63;0.937	B;P	0.52554	0.407;0.702	T	0.47129	-0.9141	10	0.39692	T	0.17	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	16;16	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	16	ENSP00000381594:V16I	ENSP00000381594:V16I	V	+	1	0	PCDHGB7	140777656	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.377000	0.79668	2.822000	0.97130	0.650000	0.86243	GTA		TCGA-IB-7888-01A-11D-2154-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	0	0	4	72	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.885874	4	70	0	9	2								-8.332241	1	1	0	0		1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.690000	0.240000	1.000000	1.000000	0.696963	0.690000	0	4.200000e-01	1
SLC1A3	6507	broad.mit.edu	37	5	36684084	36684084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:36684084G>A	ENST00000265113.4	+	9	1884	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	SLC1A3_ENST00000381918.3_Intron|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3			41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		GCTCATCATCGCGGTGGACTG	0.587000																								0							SO:0001583	missense			ENST00000265113.4	1	1	hg19	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635976	0.96693	.	.	ENSG00000079215	ENST00000265113;ENST00000427100	T	0.64260	-0.09	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.63793	0.918	T	0.79938	-0.1592	10	0.54805	T	0.06	-18.3873	19.9326	0.97124	0.0:0.0:1.0:0.0	.	470	P43003	EAA1_HUMAN	T	470;418	ENSP00000265113:A470T	ENSP00000265113:A470T	A	+	1	0	SLC1A3	36719841	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.768000	0.98965	2.720000	0.93068	0.650000	0.86243	GCG		TCGA-IB-7888-01A-11D-2154-08	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	1	0	0	60	690	0	71	0	7.535664e-01	0	33	0	71	2	0	0	0	1	0	0	2	1	1.000000	59	685	0	70	2								-14.296970	1	1	121412	1	33	1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.990000	0.760000	1.000000	1.000000	0.951944	0.990000	1	8.700000e-01	1
BDP1	55814	broad.mit.edu	37	5	70840231	70840231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:70840231C>A	ENST00000358731.4	+	31	6723	c.6460C>A	c.(6460-6462)Ctc>Atc	p.L2154I	BDP1_ENST00000380675.2_Missense_Mutation_p.L290I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB			72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)			AAATAAAAACCTCGGACCAGT	0.358000																								0							SO:0001583	missense			ENST00000358731.4	1	1	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042474	0.19748	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49139	3.67;0.79	5.24	0.299	0.15771	.	0.742384	0.12025	N	0.506463	T	0.40196	0.1107	M	0.64997	1.995	0.09310	N	1	B;B	0.21147	0.052;0.005	B;B	0.22601	0.04;0.004	T	0.35773	-0.9775	10	0.42905	T	0.14	.	4.7548	0.13078	0.0:0.5134:0.1484:0.3382	.	2154;2154	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	2154;1702;290;290	ENSP00000351575:L2154I;ENSP00000370050:L290I	ENSP00000351575:L2154I	L	+	1	0	BDP1	70875987	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-0.816000	0.04477	0.037000	0.15575	-0.122000	0.15005	CTC		TCGA-IB-7888-01A-11D-2154-08	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	0	41	507	0	53	0	9.569440e-02	0	7	0	53	2		0	0	0	0	0	2	1	1.000000	41	500	0	53	2								-2.879461	1	1	0	0		1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.920000	0.680000	1.000000	1.000000	0.908874	0.920000	1	7.900000e-01	1
POLK	51426	broad.mit.edu	37	5	74893770	74893770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:74893770T>C	ENST00000241436.4	+	15	2712	c.2540T>C	c.(2539-2541)aTg>aCg	p.M847T	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.M649T|POLK_ENST00000380481.3_Missense_Mutation_p.M757T|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000504026.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.M649T	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa			27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)			CCAGGATTGATGACAAAGTAC	0.244000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000241436.4	0	1	hg19	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252983	0.22965	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.52754	1.38;0.65;0.65;1.38	5.22	-2.08	0.07254	.	0.820001	0.11842	N	0.524186	T	0.24431	0.0592	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32295	-0.9912	10	0.02654	T	1	-0.5908	3.4503	0.07495	0.4082:0.2354:0.0:0.3564	.	649;847	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	T	847;649;649;757	ENSP00000241436:M847T;ENSP00000342256:M649T;ENSP00000426853:M649T;ENSP00000369848:M757T	ENSP00000241436:M847T	M	+	2	0	POLK	74929526	0.000000	0.05858	0.004000	0.12327	0.939000	0.58152	-0.694000	0.05115	-0.514000	0.06488	-0.333000	0.08304	ATG		TCGA-IB-7888-01A-11D-2154-08	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	1	0	0	19	208	0	8	1	7.891585e-01	4	30	0	8	2		0	0	0	0	0	2	1	0.999991	19	204	0	8	2								-19.999990	1	1	0	0		1	0	1	1	2.003436	0	0.160000	1.960000	0.155949	0.990000	0.650000	1.000000	1.000000	0.939041	0.990000	1	8.300000e-01	1
DDO	8528	broad.mit.edu	37	6	110714483	110714483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:110714483G>A	ENST00000368924.3	-	5	620	c.605C>T	c.(604-606)cCg>cTg	p.P202L	DDO_ENST00000368923.3_Missense_Mutation_p.P143L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase			24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)			GTCAAAGGACGGATGAAGTTC	0.502000																								0							SO:0001583	missense			ENST00000368924.3	1	1	hg19	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	3.961	-0.010388	0.07727	0.0	1.16E-4	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.35421	1.31;1.31;1.31	5.95	1.93	0.25924	.	0.501675	0.22971	N	0.053429	T	0.09686	0.0238	L	0.46157	1.445	0.09310	N	1	P;B	0.34662	0.462;0.121	B;B	0.17722	0.01;0.019	T	0.11470	-1.0586	10	0.31617	T	0.26	-13.5945	7.5782	0.27948	0.0:0.3124:0.3619:0.3257	.	143;202	Q99489-4;Q99489-3	.;.	L	202;143;174	ENSP00000357920:P202L;ENSP00000357919:P143L;ENSP00000357921:P174L	ENSP00000357919:P143L	P	-	2	0	DDO	110821176	0.000000	0.05858	0.018000	0.16275	0.049000	0.14656	0.680000	0.25306	0.804000	0.34136	0.563000	0.77884	CCG		TCGA-IB-7888-01A-11D-2154-08	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1	1	0	0	57	944	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	57	935	0	86	2								-2.578427	1	1	121412	13	44	1	0	1	1	1.995738	0	0.160000	1.960000	0.154589	0.700000	0.540000	0.890000	0.710000	0.714213	0.700000	0	6.100000e-01	8.000000e-01
TCP10	6953	broad.mit.edu	37	6	167789540	167789540	+	Missense_Mutation	SNP	G	G	A	rs28637384		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:167789540G>A	ENST00000397829.4	-	6	769	c.602C>T	c.(601-603)cCg>cTg	p.P201L	TCP10_ENST00000366827.2_Missense_Mutation_p.P201L	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10			18		Breast(66;1.53e-05)|Ovarian(120;0.024)			GGAGTTTTGCGGACTTCGGGA	0.612000																								0							SO:0001583	missense			ENST00000397829.4	0	1	hg19	CCDS43527.1	10	0.004578754578754579	4	0.008130081300813009	1	0.0027624309392265192	3	0.005244755244755245	2	0.002638522427440633	G	0.115	-1.133580	0.01756	0.006612	3.59E-4	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.14266	2.52;2.52	1.65	-1.01	0.10169	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47522	-0.9111	9	0.02654	T	1	.	5.1124	0.14815	0.7913:0.0:0.2087:0.0	rs28637384	228;228	Q12799;Q12799-2	TCP10_HUMAN;.	L	201	ENSP00000355792:P201L;ENSP00000380929:P201L	ENSP00000355792:P201L	P	-	2	0	TCP10	167709530	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.285000	0.18883	-0.248000	0.09583	-0.699000	0.03677	CCG		TCGA-IB-7888-01A-11D-2154-08	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	1	0	0	6	207	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	0.963528	6	203	0	25	2								-2.847517	1	1	120932	189	47	1	1	2	3	2.019436	0	0.160000	1.960000	0.166005	0.390000	0.160000	1.000000	0.360000	0.443821	0.390000	0	2.500000e-01	6.100000e-01
PHF10	55274	broad.mit.edu	37	6	170118958	170118958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:170118958G>A	ENST00000339209.4	-	3	374	c.251C>T	c.(250-252)aCa>aTa	p.T84I	PHF10_ENST00000366780.4_Missense_Mutation_p.T84I|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10			14		Breast(66;5.08e-05)|Ovarian(120;0.208)			GTATTCTCCTGTTTCATCAGG	0.313000																								0							SO:0001583	missense			ENST00000339209.4	0	1	hg19	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629915	0.67015	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29397	1.57;1.57	5.49	5.49	0.81192	.	.	.	.	.	T	0.19927	0.0479	L	0.44542	1.39	0.53005	D	0.999969	B;B	0.34329	0.449;0.321	B;B	0.35413	0.202;0.1	T	0.03483	-1.1032	9	0.59425	D	0.04	.	16.8851	0.86074	0.0:0.0:1.0:0.0	.	84;84	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	I	84	ENSP00000355743:T84I;ENSP00000341805:T84I	ENSP00000341805:T84I	T	-	2	0	PHF10	169860883	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.257000	0.78362	2.724000	0.93272	0.557000	0.71058	ACA		TCGA-IB-7888-01A-11D-2154-08	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	0	0	0	8	451	0	29	0	2.212888e-01	0	45	0	29	2		0	0	0	0	0	2	1	0.989113	8	447	0	29	2								-3.105146	1	1	0	0		1	1	2	3	2.019436	0	0.160000	1.960000	0.166005	0.230000	0.100000	1.000000	0.210000	0.298149	0.230000	0	1.600000e-01	3.500000e-01
RREB1	6239	broad.mit.edu	37	6	7229365	7229365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229365C>T	ENST00000349384.6	+	10	1347	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q345*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q345*	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)			AGACCAGGGTCAAGAAAAGCC	0.627000																								0							SO:0001587	stop_gained			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191693	0.58017	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.7	2.61	0.31194	.	0.654137	0.12867	N	0.432616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.9613	4.9171	0.13851	0.329:0.4924:0.0998:0.0788	.	.	.	.	X	345	.	ENSP00000335574:Q345X	Q	+	1	0	RREB1	7174364	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	0.831000	0.27476	0.754000	0.32968	0.455000	0.32223	CAA		TCGA-IB-7888-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	11	177	0	26	1	3.810143e-01	6	15	0	26	2		0	0	0	0	0	2	1	0.998344	11	174	0	25	2								-15.022750	1	0	0	0		1	0	0	0	1.991081	0	0.160000	1.960000	0.150485	0.730000	0.390000	1.000000	1.000000	0.740569	0.730000	0	5.400000e-01	9.600000e-01
RREB1	6239	broad.mit.edu	37	6	7229368	7229368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229368G>T	ENST00000349384.6	+	10	1350	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.E346*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E346*	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)			CCAGGGTCAAGAAAAGCCGCA	0.632000																								0							SO:0001587	stop_gained			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720585	0.68959	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.44	5.44	0.79542	.	0.520225	0.17251	N	0.181180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.0175	12.5884	0.56430	0.0761:0.0:0.9239:0.0	.	.	.	.	X	346	.	ENSP00000335574:E346X	E	+	1	0	RREB1	7174367	1.000000	0.71417	0.030000	0.17652	0.053000	0.15095	4.178000	0.58284	2.547000	0.85894	0.455000	0.32223	GAA		TCGA-IB-7888-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	0	10	182	0	25	1	3.530145e-01	8	14	0	25	2		0	0	0	0	0	2	1	0.996872	10	179	0	24	2								-13.174810	1	0	0	0		1	0	0	0	1.991081	0	0.160000	1.960000	0.150485	0.650000	0.340000	1.000000	1.000000	0.672841	0.650000	0	4.700000e-01	8.700000e-01
CFTR	1080	broad.mit.edu	37	7	117171027	117171027	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:117171027A>C	ENST00000003084.6	+	4	480	c.348A>C	c.(346-348)gaA>gaC	p.E116D	CFTR_ENST00000454343.1_Missense_Mutation_p.E116D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)			69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)	Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACAAGGAGGAACGCTCTATCG	0.448000									Cystic Fibrosis															0							SO:0001583	missense	Familial Cancer Database	CF	ENST00000003084.6	0	1	hg19	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022693	0.54683	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99748	-6.62;-2.63;-2.63;-2.63	5.73	-1.17	0.09648	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	N	0.17872	0.535	0.42468	D	0.992811	D	0.76494	0.999	D	0.83275	0.996	D	0.96486	0.9360	10	0.22109	T	0.4	-17.2878	5.6679	0.17704	0.6179:0.0:0.2697:0.1124	.	116	P13569	CFTR_HUMAN	D	35;116;116;116	ENSP00000417012:E35D;ENSP00000003084:E116D;ENSP00000403677:E116D;ENSP00000389119:E116D	ENSP00000003084:E116D	E	+	3	2	CFTR	116958263	1.000000	0.71417	0.935000	0.37517	0.096000	0.18686	0.836000	0.27545	-0.336000	0.08438	-0.388000	0.06559	GAA		TCGA-IB-7888-01A-11D-2154-08	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	0	0	0	4	200	0	21	0	5.561244e-02	1	14	0	21	2		0	0	0	0	0	2	1	0.888885	4	198	0	21	2								-3.449250	1	1	0	0		1	0	1	1	2.001689	0	0.160000	1.960000	0.155949	0.260000	0.090000	0.570000	0.240000	0.293962	0.260000	0	1.600000e-01	4.100000e-01
ASB15	142685	broad.mit.edu	37	7	123270139	123270139	+	Silent	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:123270139A>G	ENST00000451558.1	+	13	2081	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	ASB15_ENST00000275699.3_Silent_p.V520V|ASB15_ENST00000451215.1_Silent_p.V520V|ASB15_ENST00000434204.1_Silent_p.V520V|ASB15_ENST00000540573.1_Silent_p.V520V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15			12					CACTAGAAGTACAGAGAGAAT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000451558.1	1	1	hg19	CCDS34742.1																																																																																				TCGA-IB-7888-01A-11D-2154-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	0	24	328	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	24	324	0	42	2								-20.000000	1	1	0	0		1	0	1	1	2.001689	0	0.160000	1.960000	0.155949	0.840000	0.560000	1.000000	1.000000	0.843403	0.840000	0	6.900000e-01	1
NXPH1	30010	broad.mit.edu	37	7	8790918	8790918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:8790918C>T	ENST00000405863.1	+	3	1246	c.335C>T	c.(334-336)aCg>aTg	p.T112M	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1			17		Ovarian(82;0.0628)			ATTGTTAAAACGGGCAAGTTT	0.473000																								0							SO:0001583	missense			ENST00000405863.1	1	1	hg19	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220768	0.58560	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82293	-0.0529	9	0.72032	D	0.01	-8.2624	16.7467	0.85474	0.1304:0.8696:0.0:0.0	.	112	P58417	NXPH1_HUMAN	M	112	.	ENSP00000384551:T112M	T	+	2	0	NXPH1	8757443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	1.553000	0.49476	0.655000	0.94253	ACG		TCGA-IB-7888-01A-11D-2154-08	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	1	0	0	30	402	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	29	397	0	52	2								-8.202104	1	1	120786	5	38	1	1	2	3	2.008079	0	0.160000	1.960000	0.163347	0.880000	0.600000	1.000000	1.000000	0.869109	0.880000	1	7.300000e-01	1
SLC7A2	6542	broad.mit.edu	37	8	17415826	17415826	+	Missense_Mutation	SNP	C	C	G	rs148874201	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:17415826C>G	ENST00000494857.1	+	9	1436	c.1218C>G	c.(1216-1218)gaC>gaG	p.D406E	SLC7A2_ENST00000470360.1_Missense_Mutation_p.D445E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.D406E|SLC7A2_ENST00000398090.3_Missense_Mutation_p.D445E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.D446E	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2			25				L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTTTGACCTGAAGGCGC	0.507000																								0							SO:0001583	missense			ENST00000494857.1	1	0	hg19	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157068	0.38119	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.38	5.38	0.77491	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	L	0.57130	1.785	0.58432	D	0.999999	B;P;D	0.55172	0.141;0.859;0.97	B;B;P	0.55455	0.132;0.367;0.776	D	0.87579	0.2483	10	0.12430	T	0.62	.	12.823	0.57704	0.0:0.9251:0.0:0.0748	.	446;445;406	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	E	406;406;445;446;445	ENSP00000419140:D406E;ENSP00000430464:D406E;ENSP00000419873:D445E;ENSP00000004531:D446E;ENSP00000381164:D445E	ENSP00000004531:D446E	D	+	3	2	SLC7A2	17460118	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.982000	0.63825	2.691000	0.91804	0.561000	0.74099	GAC		TCGA-IB-7888-01A-11D-2154-08	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	1	0	0	22	346	0	46	0	7.163784e-01	0	41	0	46	2		0	0	0	0	0	2	1	0.999999	22	342	0	46	2								-16.208110	1	1	0	0		1	1	2	3	2.011730	0	0.160000	1.960000	0.164678	0.760000	0.490000	1.000000	1.000000	0.777142	0.760000	0	6.100000e-01	9.600000e-01
PTK2B	2185	broad.mit.edu	37	8	27288476	27288476	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:27288476C>T	ENST00000397501.1	+	13	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F|PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000420218.2_Silent_p.F251F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta			47		Ovarian(32;2.72e-05)		Leflunomide(DB01097)	TGAAGTTCTTCAACACTCTCG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000397501.1	1	1	hg19	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608253	0.28623	.	.	ENSG00000120899	ENST00000519512	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1808	0.59653	0.0:0.8401:0.1599:0.0	.	.	.	.	X	25	.	.	Q	+	1	0	PTK2B	27344393	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.490000	0.22403	2.735000	0.93741	0.655000	0.94253	CAA		TCGA-IB-7888-01A-11D-2154-08	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	1	0	1	28	486	0	75	1	8.909084e-01	12	57	0	75	2		0	0	0	0	0	2	1	1.000000	28	481	0	74	2								-5.730829	1	1	0	0		1	1	2	3	2.011730	0	0.160000	1.960000	0.164678	0.690000	0.470000	1.000000	0.680000	0.715459	0.690000	0	5.700000e-01	8.600000e-01
CSMD1	64478	broad.mit.edu	37	8	3165343	3165343	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:3165343G>A	ENST00000520002.1	-	26	4382	c.3827C>T	c.(3826-3828)gCg>gTg	p.A1276V	CSMD1_ENST00000542608.1_Splice_Site_p.A1275V|CSMD1_ENST00000602557.1_Splice_Site_p.A1276V|CSMD1_ENST00000537824.1_Splice_Site_p.A1275V|CSMD1_ENST00000400186.3_Splice_Site_p.A1276V|CSMD1_ENST00000602723.1_Splice_Site_p.A1276V|CSMD1_ENST00000539096.1_Splice_Site_p.A1275V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			ACCACATTCCGCTGTAGAAGA	0.448000																								0							SO:0001630	splice_region_variant			ENST00000520002.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.328932	0.95733	0.0	1.19E-4	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.86	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (1);	0.069339	0.56097	D	0.000026	T	0.55178	0.1904	M	0.84156	2.68	0.80722	D	1	P;D;D	0.89917	0.847;1.0;0.981	B;D;P	0.73380	0.129;0.98;0.832	T	0.60767	-0.7198	10	0.49607	T	0.09	.	18.0036	0.89203	0.0:0.0:1.0:0.0	.	1276;1276;1276	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1276;1276;1138;1275;1275;1275	ENSP00000383047:A1276V;ENSP00000430733:A1276V;ENSP00000441462:A1275V;ENSP00000446243:A1275V;ENSP00000441675:A1275V	ENSP00000320445:A1138V	A	-	2	0	CSMD1	3152750	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	9.606000	0.98325	2.241000	0.73720	0.655000	0.94253	GCG		TCGA-IB-7888-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	0	31	381	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	30	380	0	47	2								-3.318793	1	1	120976	18	44	1	1	2	3	2.028523	0	0.160000	1.960000	0.167987	0.970000	0.660000	1.000000	1.000000	0.922793	0.970000	1	8.000000e-01	1
ASTN2	23245	broad.mit.edu	37	9	119188282	119188282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:119188282C>T	ENST00000313400.4	-	23	3968	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	ASTN2_ENST00000373996.3_Missense_Mutation_p.V1286M|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1239M|ASTN2_ENST00000341734.4_Missense_Mutation_p.V342M|ASTN2_ENST00000288520.5_Missense_Mutation_p.V391M|ASTN2_ENST00000361477.3_Missense_Mutation_p.V342M			O75129	ASTN2_HUMAN	astrotactin 2			102					ACTGTTTCCACGCGGCTCTGG	0.582000																								0							SO:0001583	missense			ENST00000313400.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.58	2.877017	0.51801	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.14766	2.9;2.9;2.48;2.49;2.72;2.91;2.49	5.86	5.86	0.93980	.	0.187931	0.46442	D	0.000285	T	0.10551	0.0258	N	0.08118	0	0.39656	D	0.970535	P;P;D;D;D;P;P	0.63046	0.567;0.567;0.992;0.987;0.989;0.567;0.882	B;B;P;B;P;B;B	0.51193	0.141;0.141;0.607;0.403;0.662;0.216;0.388	T	0.07520	-1.0768	10	0.51188	T	0.08	-23.4177	7.6948	0.28587	0.0:0.808:0.0:0.192	.	342;342;1239;1290;1286;342;391	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	M	1290;1286;391;342;1013;1239;342	ENSP00000314038:V1290M;ENSP00000363108:V1286M;ENSP00000288520:V391M;ENSP00000339925:V342M;ENSP00000363098:V1013M;ENSP00000354504:V1239M;ENSP00000355116:V342M	ENSP00000288520:V391M	V	-	1	0	ASTN2	118228103	1.000000	0.71417	0.966000	0.40874	0.836000	0.47400	4.208000	0.58486	2.761000	0.94854	0.655000	0.94253	GTG		TCGA-IB-7888-01A-11D-2154-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	12	213	0	28	0	1.119584e-01	0	10	0	28	2		0	0	0	0	0	2	1	0.999146	12	211	0	27	2								-15.089070	1	1	121412	4	33	1	0	1	1	2.003816	0	0.160000	1.960000	0.155949	0.670000	0.370000	1.000000	1.000000	0.688759	0.670000	0	5.000000e-01	8.700000e-01
COL5A1	1289	broad.mit.edu	37	9	137658318	137658318	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:137658318G>C	ENST00000371817.3	+	22	2521	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GGGTATGGACGGCCAGCCGGG	0.542000																								0							SO:0001583	missense			ENST00000371817.3	0	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620563	0.28801	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.71	3.79	0.43588	.	0.000000	0.64402	U	0.000001	D	0.99318	0.9761	H	0.98314	4.2	0.47819	D	0.999522	D	0.63046	0.992	P	0.53722	0.733	D	0.98691	1.0696	10	0.87932	D	0	.	10.0654	0.42299	0.0:0.0:0.7989:0.2011	.	703	P20908	CO5A1_HUMAN	R	703	ENSP00000360882:G703R	ENSP00000360882:G703R	G	+	1	0	COL5A1	136798139	1.000000	0.71417	0.559000	0.28332	0.315000	0.28087	6.660000	0.74417	0.933000	0.37291	0.655000	0.94253	GGC		TCGA-IB-7888-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	0	10	224	0	30	0	9.943699e-01	0	206	0	30	2		0	0	0	0	0	2	1	0.996863	10	222	0	30	2								-3.884504	1	1	0	0		1	0	1	1	2.003816	0	0.160000	1.960000	0.155949	0.540000	0.280000	0.900000	0.520000	0.565456	0.540000	0	3.900000e-01	7.200000e-01
DOCK8	81704	broad.mit.edu	37	9	328114	328114	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:328114G>A	ENST00000453981.1	+	9	1099	c.987G>A	c.(985-987)gcG>gcA	p.A329A	DOCK8_ENST00000432829.2_Silent_p.A261A|DOCK8_ENST00000469391.1_Silent_p.A261A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			CAAGTCAGGCGAGATCTGCAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000453981.1	1	1	hg19	CCDS6440.2																																																																																				TCGA-IB-7888-01A-11D-2154-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	0	25	255	0	30	0	7.295541e-01	0	28	0	30	2		0	0	0	0	0	2	1	1.000000	25	255	0	29	2								-2.966611	1	1	0	0		1	0	1	1	2.003816	0	0.160000	1.960000	0.155949	0.990000	0.740000	1.000000	1.000000	0.967088	0.990000	1	9.100000e-01	1
MELK	9833	broad.mit.edu	37	9	36670999	36670999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:36670999C>T	ENST00000298048.2	+	16	1694	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	MELK_ENST00000541717.1_Missense_Mutation_p.R463C|MELK_ENST00000543751.1_Missense_Mutation_p.R472C|MELK_ENST00000536329.1_Missense_Mutation_p.R433C|MELK_ENST00000545008.1_Missense_Mutation_p.R433C|MELK_ENST00000538311.1_Missense_Mutation_p.R310C|MELK_ENST00000536987.1_Missense_Mutation_p.R373C|MELK_ENST00000536860.1_Missense_Mutation_p.R456C	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	p.R504C(2)		29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)		TTTCAGGTGCCGCTCAGTGGA	0.488000													Ovarian(82;980 1317 7225 14391 18624)											2	Substitution - Missense(2)						SO:0001583	missense			ENST00000298048.2	1	1	hg19	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455826	0.84209	0.0	1.16E-4	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.73789	-0.58;0.39;0.17;0.71;0.08;-0.78;-0.56;-0.59	5.95	5.95	0.96441	.	0.099925	0.64402	D	0.000001	D	0.85279	0.5660	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;P;P	0.70716	0.97;0.97;0.921;0.921;0.911;0.886;0.886	D	0.84401	0.0560	10	0.54805	T	0.06	-9.996	20.3932	0.98965	0.0:1.0:0.0:0.0	.	424;433;456;463;433;472;504	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	C	504;310;373;433;456;433;463;472	ENSP00000298048:R504C;ENSP00000438226:R310C;ENSP00000439184:R373C;ENSP00000445452:R433C;ENSP00000439792:R456C;ENSP00000443550:R433C;ENSP00000437804:R463C;ENSP00000441596:R472C	ENSP00000298048:R504C	R	+	1	0	MELK	36660999	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.420000	0.52735	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-7888-01A-11D-2154-08	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	0	29	487	0	41	1	9.344850e-02	2	7	0	41	2		0	0	0	0	0	2	1	1.000000	28	484	0	41	2								-2.642034	1	1	121412	4	39	1	0	1	1	2.003816	0	0.160000	1.960000	0.155949	0.690000	0.480000	0.960000	0.690000	0.711876	0.690000	0	5.800000e-01	8.300000e-01
LAMP2	3920	broad.mit.edu	37	X	119576496	119576496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:119576496G>T	ENST00000200639.4	-	7	1022	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	LAMP2_ENST00000434600.2_Missense_Mutation_p.L296M|LAMP2_ENST00000538785.1_Missense_Mutation_p.L185M|LAMP2_ENST00000371335.4_Missense_Mutation_p.L296M|LAMP2_ENST00000540603.1_Missense_Mutation_p.L249M			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2			15					ACTTCCTTCAGATAAAATCGG	0.383000																								0							SO:0001583	missense			ENST00000200639.4	1	1	hg19	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510196	0.64522	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.34	4.48	0.54585	.	0.000000	0.64402	D	0.000002	T	0.76557	0.4004	M	0.91038	3.17	0.48288	D	0.999626	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80625	-0.1299	10	0.72032	D	0.01	-9.4133	11.8331	0.52307	0.0878:0.0:0.9122:0.0	.	249;185;296;296;296	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	M	296;185;296;296;249	ENSP00000408411:L296M;ENSP00000440506:L185M;ENSP00000200639:L296M;ENSP00000360386:L296M;ENSP00000440479:L249M	ENSP00000200639:L296M	L	-	1	2	LAMP2	119460524	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.599000	0.67592	1.011000	0.39340	0.594000	0.82650	CTG		TCGA-IB-7888-01A-11D-2154-08	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1	1	0	1	87	1288	0	158	1	1	101	299	0	158	2		0	0	0	0	0	2	1	1.000000	87	1276	0	158	2								-12.721170	1	1	0	0		1	0	1	1			0.160000	1.960000	0.160000	0.780000	0.630000	0.950000	0.790000	0.795474	0.780000	0	7.000000e-01	8.700000e-01
CSF2RA	1438	broad.mit.edu	37	X	1428355	1428355	+	Missense_Mutation	SNP	G	G	A	rs139686363	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:1428355G>A	ENST00000381524.3	+	13	1372	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V396M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V430M|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R336H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V263M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V396M|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)			45		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)		Sargramostim(DB00020)	GGTCTTGACCGTGAAGGAAAT	0.527000													Esophageal Squamous(131;723 1707 25334 40494 41806)											0							SO:0001583	missense			ENST00000381524.3	0	1	hg19	CCDS35191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.17|11.17	1.559304|1.559304	0.27827|0.27827	0.0|0.0	3.49E-4|3.49E-4	ENSG00000198223|ENSG00000198223	ENST00000355432|ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000417535	T|D;D;D;D;D	0.46451|0.95272	0.87|-3.53;-3.53;-3.66;-3.53;-3.32	0.69|0.69	0.69|0.69	0.18039|0.18039	.|.	.|.	.|.	.|.	.|.	D|D	0.95522|0.95522	0.8545|0.8545	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D;D	0.54207|0.76494	0.965|0.999;0.997	B|P;P	0.32864|0.61201	0.154|0.885;0.838	D|D	0.88243|0.88243	0.2911|0.2911	7|7	0.87932|0.66056	D|D	0|0.02	.|.	.|.	.|.	.|.	.|.	337|430;396	P15509-5|A7J003;P15509	.|.;CSF2R_HUMAN	H|M	336|396;396;263;396;430	ENSP00000347606:R336H|ENSP00000370940:V396M;ENSP00000416437:V396M;ENSP00000440491:V263M;ENSP00000370935:V396M;ENSP00000394227:V430M	ENSP00000347606:R336H|ENSP00000370935:V396M	R|V	+|+	2|1	0|0	CSF2RA|CSF2RA	1388355|1388355	0.007000|0.007000	0.16637|0.16637	0.020000|0.020000	0.16555|0.16555	0.092000|0.092000	0.18411|0.18411	1.192000|1.192000	0.32150|0.32150	0.658000|0.658000	0.30925|0.30925	0.110000|0.110000	0.15639|0.15639	CGT|GTG		TCGA-IB-7888-01A-11D-2154-08	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2	0	0	0	6	878	0	91	0	4.139506e-02	0	39	0	91	2		0	0	0	0	0	2	1	0.964281	6	872	0	91	2								-2.034825	0	1	121412	18	48	1	0	1	1			0.160000	1.960000	0.160000	0.080000	0.030000	0.180000	0.080000	0.098159	0.080000	0	5.000000e-02	1.300000e-01
STS	412	broad.mit.edu	37	X	7267976	7267976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:7267976G>A	ENST00000217961.4	+	10	1646	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S			27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)		Norelgestromin(DB06713)	CTTCAACCCCGTGGGTTCCAA	0.473000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000217961.4	0	1	hg19	CCDS14127.1	3	0.0018083182640144665	0	0.0	0	0.0	1	0.0017605633802816902	0	0.0	G	8.477	0.858878	0.17178	.	.	ENSG00000101846	ENST00000217961	D	0.89415	-2.51	4.22	3.35	0.38373	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.537990	0.20281	N	0.095442	T	0.70413	0.3221	N	0.03608	-0.345	0.09310	N	0.999996	P	0.41498	0.752	B	0.33339	0.162	T	0.65146	-0.6239	10	0.56958	D	0.05	.	7.1491	0.25599	0.2151:0.0:0.7849:0.0	.	476	P08842	STS_HUMAN	M	476	ENSP00000217961:V476M	ENSP00000217961:V476M	V	+	1	0	STS	7277976	0.042000	0.20092	0.064000	0.19789	0.004000	0.04260	1.805000	0.38883	0.627000	0.30340	0.594000	0.82650	GTG		TCGA-IB-7888-01A-11D-2154-08	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	0	0	0	6	871	0	92	0	1.467889e-01	0	83	0	92	2	0	0	0	1	0	0	2	1	0.963373	6	858	0	91	2								-2.891929	1	1	121388	32	49	1	0	1	1			0.160000	1.960000	0.160000	0.080000	0.030000	0.180000	0.080000	0.098936	0.080000	0	5.000000e-02	1.300000e-01
