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
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:26508064G>A	ENST00000376261.3	+	4	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_ENST00000259271.3_Missense_Mutation_p.D127N|GAD2_ENST00000376248.1_Missense_Mutation_p.D13N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)			48					GAAAAGTTTCGATAGATCAAC	0.393000																								0							SO:0001583	missense			ENST00000376261.3	0	1	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081306	0.94050	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.59638	1.2;1.2;0.25;1.2	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.81497	2.545	0.80722	D	1	D;P	0.89917	1.0;0.903	D;B	0.87578	0.998;0.192	T	0.76691	-0.2866	10	0.37606	T	0.19	-20.8562	19.6436	0.95767	0.0:0.0:1.0:0.0	.	127;127	Q4G154;Q05329	.;DCE2_HUMAN	N	127;127;127;13	ENSP00000365437:D127N;ENSP00000259271:D127N;ENSP00000390434:D127N;ENSP00000365424:D13N	ENSP00000259271:D127N	D	+	1	0	GAD2	26548070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.621000	0.88768	0.650000	0.86243	GAT		TCGA-IB-7891-01A-11D-2201-08	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	0	0	11	534	0	100	0	2.361929e-01	0	42	0	100	2		0	0	0	0	0	2	1	9.983088e-01	11	531	0	100	2	0	0	0	0	0	0		-2.666951	1	1	0	0		1	0	0	0	1.981470	0	0.100000	2	0.085366	0.400000	0.210000	0.670000	0.390000	0.423258	0.400000	0	2.900000e-01	5.400000e-01
DSCAML1	57453	broad.mit.edu	37	11	117387200	117387200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:117387200C>T	ENST00000321322.6	-	8	1946	c.1945G>A	c.(1945-1947)Gtt>Att	p.V649I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V379I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			GCTACGTGAACGCTCTGGCTG	0.632000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098394	0.37048	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.77750	-1.12;-1.12	3.95	3.95	0.45737	Immunoglobulin-like fold (1);	.	.	.	.	T	0.70168	0.3193	L	0.39020	1.185	0.54753	D	0.999985	B	0.32918	0.39	B	0.33846	0.171	T	0.69847	-0.5034	9	0.33141	T	0.24	.	16.528	0.84336	0.0:1.0:0.0:0.0	.	589	Q8TD84	DSCL1_HUMAN	I	379;649;356	ENSP00000434335:V379I;ENSP00000315465:V649I	ENSP00000315465:V649I	V	-	1	0	DSCAML1	116892410	0.998000	0.40836	0.961000	0.40146	0.497000	0.33675	3.807000	0.55591	2.202000	0.70862	0.462000	0.41574	GTT		TCGA-IB-7891-01A-11D-2201-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	0	15	303	0	90	0	3.417779e-02	0	6	0	90	2		0	0	0	0	0	2	1	9.998755e-01	14	302	0	90	2	0	0	0	0	0	0		-16.403120	1	1	121396	1	30	1	0	1	1	1.998681	0	0.100000	2	0.094112	0.930000	0.550000	1.000000	1.000000	0.887000	0.930000	1	7.200000e-01	1
MICAL2	9645	broad.mit.edu	37	11	12278458	12278458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:12278458C>T	ENST00000256194.4	+	24	3370	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	MICAL2_ENST00000537344.1_Missense_Mutation_p.R838C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2			47					GGAGTGTTTCCGCTGCAGCAT	0.607000																								0							SO:0001583	missense			ENST00000256194.4	1	1	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832011	0.71258	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.17	3.13	0.36017	Zinc finger, LIM-type (5);	0.145385	0.40064	N	0.001192	D	0.89829	0.6828	M	0.69463	2.115	0.43734	D	0.996226	D;B;B;D;B;B	0.89917	1.0;0.015;0.019;0.977;0.019;0.024	D;B;B;P;B;B	0.65874	0.939;0.007;0.005;0.832;0.008;0.024	D	0.88234	0.2905	10	0.54805	T	0.06	.	5.9676	0.19334	0.4069:0.4919:0.0:0.1012	.	371;1007;838;781;802;1028	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	C	838;371;1028;838;1007;802	ENSP00000441689:R838C;ENSP00000256194:R1028C;ENSP00000433965:R838C;ENSP00000344894:R1007C;ENSP00000368932:R802C	ENSP00000256194:R1028C	R	+	1	0	MICAL2	12235034	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.222000	0.58580	1.180000	0.42898	0.655000	0.94253	CGC		TCGA-IB-7891-01A-11D-2201-08	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	1	0	0	29	307	0	73	1	9.997447e-01	13	124	0	73	2		0	0	0	0	0	2	1	1	29	305	0	73	2	0	0	0	0	0	0		-2.841672	1	1	121412	2	32	1	0	1	1	1.870329	1	0.100000	2	0.052632	0.950000	0.780000	1.000000	0.990000	0.939154	0.950000	1	8.700000e-01	9.900000e-01
GDPD5	81544	broad.mit.edu	37	11	75152278	75152278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75152278G>A	ENST00000336898.3	-	14	2240	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	GDPD5_ENST00000526177.1_Missense_Mutation_p.A330V|GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	p.A468V(1)		20					TGGGACCCCCGCACACCACAG	0.657000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000336898.3	1	1	hg19	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.938166	0.34189	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.84	3.93	0.45458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.567129	0.19640	N	0.109472	T	0.36717	0.0977	L	0.32530	0.975	0.32212	N	0.576458	P;B	0.40360	0.714;0.15	B;B	0.34138	0.176;0.02	T	0.45862	-0.9232	10	0.25751	T	0.34	-13.6432	11.2242	0.48873	0.0897:0.0:0.9103:0.0	.	349;468	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	V	330;349;468;468;223;349;52	ENSP00000434050:A330V;ENSP00000437049:A349V;ENSP00000433214:A468V;ENSP00000337972:A468V;ENSP00000435196:A223V;ENSP00000365459:A349V;ENSP00000435728:A52V	ENSP00000337972:A468V	A	-	2	0	GDPD5	74829926	0.958000	0.32768	0.015000	0.15790	0.379000	0.30106	4.329000	0.59260	1.416000	0.47057	0.645000	0.84053	GCG		TCGA-IB-7891-01A-11D-2201-08	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	1	0	0	15	270	0	78	1	8.401311e-01	3	59	0	78	2		0	0	0	0	0	2	1	9.998736e-01	15	267	0	77	2	0	0	0	0	0	0		-2.917329	1	1	121412	3	35	1	0	1	1	1.998681	0	0.100000	2	0.094112	0.990000	0.610000	1.000000	1.000000	0.930913	0.990000	1	8.000000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13717016	13717016	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13717016G>A	ENST00000609686.1	-	13	3365	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCAAGTCGTCGTGGCCACTGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000609686.1	1	1	hg19	CCDS8662.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	0	15	160	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.998632e-01	15	155	0	37	2	0	0	0	0	0	0		-19.900610	1	1	121412	1	35	1	1	2	3	2.055412	0	0.100000	2	0.117647	0.990000	0.990000	1.000000	1.000000	0.998495	0.990000	1	9.900000e-01	1
USP15	9958	broad.mit.edu	37	12	62715327	62715327	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:62715327C>T	ENST00000280377.5	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N186N|USP15_ENST00000393654.3_Silent_p.N186N|USP15_ENST00000353364.3_Silent_p.N186N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15			37			GBM - Glioblastoma multiforme(1;0.000276)		ACATGAGTAACACATTTGAAC	0.333000													Melanoma(181;615 2041 39364 49691 50001)											0							SO:0001819	synonymous_variant			ENST00000280377.5	1	1	hg19	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931159	0.18131	.	.	ENSG00000135655	ENST00000549237	.	.	.	5.42	0.448	0.16614	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-16.2298	9.7353	0.40384	0.0:0.3589:0.0:0.6411	.	.	.	.	I	182	.	.	T	+	2	0	USP15	61001594	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.192000	0.32150	-0.160000	0.11002	-0.295000	0.09555	ACA		TCGA-IB-7891-01A-11D-2201-08	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1	27	227	0	36	1	8.622018e-01	3	29	0	36	2		0	0	0	0	0	2	1	1	27	226	0	35	2	0	0	0	0	0	0		-11.612690	1	1	0	0		1	1	2	3	2.055412	0	0.100000	2	0.117647	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
HEATR5A	25938	broad.mit.edu	37	14	31785103	31785103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:31785103C>T	ENST00000389961.3	-	26	4072	c.4073G>A	c.(4072-4074)cGa>cAa	p.R1358Q	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1071Q|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1364Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1358Q			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A			26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)		ATGAACTCTTCGGAGATCATT	0.343000																								0							SO:0001583	missense			ENST00000389961.3	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.301200|3.301200	0.60195|0.60195	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.070047	.|0.64402	.|D	.|0.000017	T|T	0.44244|0.44244	0.1284|0.1284	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P	.|0.34892	.|0.474	.|B	.|0.34652	.|0.187	T|T	0.46582|0.46582	-0.9181|-0.9181	5|10	.|0.56958	.|D	.|0.05	.|.	9.7874|9.7874	0.40684|0.40684	0.0:0.847:0.0:0.153|0.0:0.847:0.0:0.153	.|.	.|1358	.|Q86XA9-2	.|.	K|Q	992|1358;1358;1071;1364	.|ENSP00000374611:R1358Q;ENSP00000405407:R1358Q;ENSP00000408681:R1071Q;ENSP00000437968:R1364Q	.|ENSP00000374611:R1358Q	E|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30854854|30854854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.972000|3.972000	0.56838|0.56838	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	GAA|CGA		TCGA-IB-7891-01A-11D-2201-08	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	4	63	0	11	1	5.670895e-01	6	22	0	11	2		0	0	0	0	0	2	1	8.924538e-01	4	63	0	10	2	0	0	0	0	0	0		-8.418516	1	1	119840	6	33	1	0	0	0	1.957353	0	0.100000	2	0.074074	0.960000	0.370000	1.000000	1.000000	0.856391	0.960000	1	6.300000e-01	1
LRRK1	79705	broad.mit.edu	37	15	101593294	101593294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:101593294G>T	ENST00000388948.3	+	25	4215		c.e25+1		LRRK1_ENST00000284395.5_Splice_Site|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		GTACCGGCAGGTAAGCGGGTC	0.582000																								0							SO:0001630	splice_region_variant			ENST00000388948.3	1	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896292	0.17686	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0726	0.59070	0.0:0.0:0.8402:0.1598	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK1	99410817	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.192000	0.65115	2.352000	0.79861	0.650000	0.86243	.		TCGA-IB-7891-01A-11D-2201-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	0	16	171	0	39	0	0	1	0	0	39	2		0	0	0	0	0	2	1	9.999325e-01	15	167	0	36	2	0	0	0	0	0	0		-19.996220	1	1	0	0		1	0	0	0	1.926108	0	0.100000	2	0.058577	0.990000	0.730000	1.000000	1.000000	0.958345	0.990000	1	8.900000e-01	1
XYLT1	64131	broad.mit.edu	37	16	17211716	17211716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:17211716C>T	ENST00000261381.6	-	11	2428	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I			67					ACCCAAATGACGGTCACGGTC	0.557000																								0							SO:0001583	missense			ENST00000261381.6	1	1	hg19	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690680	0.48097	.	.	ENSG00000103489	ENST00000261381	T	0.48201	0.82	4.98	1.94	0.25998	.	0.110450	0.64402	N	0.000009	T	0.28732	0.0712	N	0.21373	0.66	0.58432	D	0.999995	P	0.51933	0.949	B	0.41374	0.355	T	0.02797	-1.1109	10	0.21014	T	0.42	-34.163	9.245	0.37520	0.0:0.7638:0.0:0.2362	.	782	Q86Y38	XYLT1_HUMAN	I	782	ENSP00000261381:V782I	ENSP00000261381:V782I	V	-	1	0	XYLT1	17119217	0.996000	0.38824	0.294000	0.24946	0.888000	0.51559	3.356000	0.52269	0.222000	0.20900	0.462000	0.41574	GTC		TCGA-IB-7891-01A-11D-2201-08	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	0	37	382	0	93	1	7.230593e-01	2	26	0	93	2		0	0	0	0	0	2	1	1	36	376	0	91	2	0	0	0	0	0	0		-11.570400	1	1	121412	8	40	1	0	1	1	1.997319	0	0.100000	2	0.093656	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
SPACA3	124912	broad.mit.edu	37	17	31322436	31322436	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:31322436C>T	ENST00000269053.3	+	2	114	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3			18			BRCA - Breast invasive adenocarcinoma(9;0.193)		GGGGTGCACTCAAGCCCTGTT	0.607000																								0							SO:0001583	missense			ENST00000269053.3	1	1	hg19	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	c	12.96	2.094702	0.36952	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.70282	-0.47	3.91	2.9	0.33743	.	3.623610	0.01194	N	0.007405	T	0.60340	0.2261	N	0.19112	0.55	0.09310	N	1	P	0.37061	0.58	B	0.34536	0.185	T	0.50440	-0.8828	10	0.72032	D	0.01	-4.9368	9.1863	0.37172	0.2182:0.7818:0.0:0.0	.	15	Q8IXA5	SACA3_HUMAN	L	15;16	ENSP00000269053:S15L	ENSP00000269053:S15L	S	+	2	0	SPACA3	28346549	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.526000	0.35964	-1.019000	0.03358	-0.640000	0.03970	TCA		TCGA-IB-7891-01A-11D-2201-08	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	1	0	0	28	423	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	26	414	0	111	2	0	0	0	0	0	0		-7.086114	1	1	0	0		1	1	2	3	2.020142	0	0.100000	2	0.110232	0.990000	0.870000	1.000000	1.000000	0.991823	0.990000	1	9.900000e-01	1
GPR179	440435	broad.mit.edu	37	17	36486065	36486065	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:36486065C>T	ENST00000342292.4	-	11	3407	c.3387G>A	c.(3385-3387)tcG>tcA	p.S1129S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179			60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)			CTAGCCTGGGCGATCGGGAGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000342292.4	0	1	hg19	CCDS42308.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0	0	0	14	571	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	9.997391e-01	14	567	0	122	2	0	0	0	0	0	0		-3.433975	1	1	120824	14	43	1	1	4	5	2.349228	1	0.100000	2	0.217391	0.560000	0.320000	0.880000	0.550000	0.583490	0.560000	0	4.300000e-01	7.300000e-01
FBXO47	494188	broad.mit.edu	37	17	37119246	37119246	+	Missense_Mutation	SNP	C	C	G	rs140430888	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:37119246C>G	ENST00000378079.2	-	2	232	c.33G>C	c.(31-33)ttG>ttC	p.L11F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47			20					GGTTGGGAATCAAAGTGAAAT	0.363000																								0							SO:0001583	missense			ENST00000378079.2	1	0	hg19	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547742	0.27652	.	.	ENSG00000204952	ENST00000378079	T	0.48201	0.82	4.69	4.69	0.59074	.	0.532223	0.16454	N	0.213717	T	0.30572	0.0769	L	0.32530	0.975	0.35373	D	0.789263	P	0.39216	0.664	B	0.32289	0.143	T	0.29671	-1.0004	10	0.11485	T	0.65	-0.178	11.1322	0.48354	0.0:0.813:0.187:0.0	.	11	Q5MNV8	FBX47_HUMAN	F	11	ENSP00000367319:L11F	ENSP00000367319:L11F	L	-	3	2	FBXO47	34372772	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	1.816000	0.38992	2.151000	0.67156	0.313000	0.20887	TTG		TCGA-IB-7891-01A-11D-2201-08	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	1	0	1	143	624	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	140	616	0	116	2	0	0	0	0	0	0		-3.300245	1	1	121408	156	54	1						0.100000	2									0	0
EFTUD2	9343	broad.mit.edu	37	17	42961062	42961062	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:42961062C>G	ENST00000426333.2	-	5	678	c.381G>C	c.(379-381)gaG>gaC	p.E127D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E92D|EFTUD2_ENST00000589211.1_5'Flank|RN7SL405P_ENST00000582502.1_RNA|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E127D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2			32		Prostate(33;0.109)			TTCTGATGAGCTCTGAGTTAT	0.438000													Ovarian(10;65 485 10258 29980 30707)											0							SO:0001583	missense			ENST00000426333.2	1	1	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782446	0.31502	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	5.23	2.11	0.27256	.	0.097934	0.64402	D	0.000002	T	0.63200	0.2491	L	0.37800	1.135	0.51233	D	0.999919	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.51450	-0.8704	10	0.15499	T	0.54	-30.6821	8.7092	0.34374	0.0:0.6381:0.0:0.3619	.	127;127	B4DMC0;Q15029	.;U5S1_HUMAN	D	127;117;92	ENSP00000392094:E127D;ENSP00000385873:E92D	ENSP00000262414:E117D	E	-	3	2	EFTUD2	40316588	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.674000	0.25218	0.778000	0.33520	-0.170000	0.13304	GAG		TCGA-IB-7891-01A-11D-2201-08	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	0	30	332	0	70	1	9.979058e-01	22	83	0	70	2		0	0	0	0	0	2	1	1	30	328	0	70	2	0	0	0	0	0	0		-9.584255	1	1	0	0		1	0	1	1	1.988717	0	0.100000	2	0.091826	0.990000	0.990000	1.000000	1.000000	0.999611	0.990000	1	9.900000e-01	1
ITGA3	3675	broad.mit.edu	37	17	48151552	48151552	+	Silent	SNP	C	C	T	rs78768954	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48151552C>T	ENST00000320031.8	+	9	1620	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ITGA3_ENST00000544892.1_Silent_p.F205F|ITGA3_ENST00000007722.7_Silent_p.F430F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)			31					TGGCCACCTTCGGCTATTCCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000320031.8	1	1	hg19	CCDS11558.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	0	0	0	18	939	0	145	1	9.999989e-01	36	1239	0	145	2		0	0	0	0	0	2	1	9.999801e-01	18	932	0	144	2	0	0	0	0	0	0		-2.670600	1	1	121412	29	48	1	1	15	16	3.628096	1	0.100000	2	0.470588	0.650000	0.370000	1.000000	1.000000	0.670098	0.650000	0	5.000000e-01	8.300000e-01
CACNA1G	8913	broad.mit.edu	37	17	48678109	48678109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48678109C>T	ENST00000359106.5	+	18	3713	c.3713C>T	c.(3712-3714)gCg>gTg	p.A1238V	CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1215V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1238V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGGTCCGCGCGTGGATCCGA	0.627000																								0							SO:0001583	missense			ENST00000359106.5	1	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.196796	0.38806	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97430	-4.02;-4.02;-4.18;-3.97;-4.02;-4.02;-4.06;-4.13;-4.08;-4.11;-4.12;-4.0;-4.0;-4.07;-4.02;-3.97;-4.05;-4.01;-4.0;-4.05;-4.02;-4.0;-4.05;-4.0;-4.05;-4.05;-4.38	5.46	4.46	0.54185	.	0.272836	0.36409	N	0.002620	D	0.96608	0.8893	L	0.39898	1.24	0.09310	N	0.999999	D;B;B;B;B;B;B;B;B;D;D;B;B;B;B;B;B;B;B;D;D;B;D;B;B;B	0.89917	0.998;0.002;0.001;0.002;0.002;0.003;0.004;0.001;0.004;0.977;0.99;0.001;0.001;0.002;0.002;0.001;0.001;0.003;0.002;0.99;1.0;0.002;0.99;0.001;0.052;0.001	D;B;B;B;B;B;B;B;B;P;P;B;B;B;B;B;B;B;B;P;D;B;P;B;B;B	0.71184	0.95;0.003;0.002;0.005;0.002;0.002;0.004;0.002;0.004;0.565;0.6;0.008;0.003;0.002;0.002;0.002;0.001;0.005;0.002;0.734;0.972;0.003;0.6;0.003;0.003;0.003	D	0.91165	0.4964	10	0.36615	T	0.2	.	8.4476	0.32852	0.1508:0.7688:0.0:0.0804	.	1215;1238;1238;1238;1238;1238;1238;1238;1238;1238;1238;1215;1238;1238;1238;1238;1238;1215;1238;1215;1215;1215;1215;1238;1215;1238	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	V	1215;1215;1238;1215;1215;1215;1238;1238;1215;1238;1238;1238;1238;1238;1238;1215;1238;1238;1238;1238;1215;1238;1238;1238;1238;1238;53	ENSP00000353990:A1215V;ENSP00000339302:A1215V;ENSP00000392390:A1238V;ENSP00000347078:A1215V;ENSP00000409759:A1215V;ENSP00000425522:A1215V;ENSP00000426261:A1238V;ENSP00000425451:A1238V;ENSP00000422407:A1215V;ENSP00000426814:A1238V;ENSP00000427238:A1238V;ENSP00000423112:A1238V;ENSP00000420918:A1238V;ENSP00000426172:A1238V;ENSP00000423045:A1238V;ENSP00000427173:A1215V;ENSP00000426098:A1238V;ENSP00000425698:A1238V;ENSP00000426232:A1238V;ENSP00000423317:A1238V;ENSP00000350979:A1215V;ENSP00000352011:A1238V;ENSP00000414388:A1238V;ENSP00000423155:A1238V;ENSP00000422268:A1238V;ENSP00000421518:A1238V;ENSP00000427697:A53V	ENSP00000339302:A1215V	A	+	2	0	CACNA1G	46033108	0.774000	0.28592	0.063000	0.19743	0.033000	0.12548	1.315000	0.33608	1.243000	0.43853	0.655000	0.94253	GCG		TCGA-IB-7891-01A-11D-2201-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	0	0	16	532	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	9.999237e-01	16	522	0	63	2	0	0	0	0	0	0		-13.907300	1	1	121022	2	38	1	1	15	16	3.628096	1	0.100000	2	0.470588	0.990000	0.580000	1.000000	1.000000	0.921160	0.990000	1	7.800000e-01	1
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V	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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582000		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	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	GRCh37	CM010464|CM900209	TP53	M	rs121912656	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	0	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		TCGA-IB-7891-01A-11D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	32	280	0	67	1	9.998520e-01	28	92	0	67	2	1	1	81	1226	0	655	2	1	1	31	277	0	67	2	0	0	0	0	0	0		-2.230658	0	1	121412	1	29	1	0	1	1	1.867046	1	0.100000	2	0.052632	0.960000	0.820000	1.000000	0.990000	0.952674	0.960000	1	9.000000e-01	9.900000e-01
SMAD4	4089	broad.mit.edu	37	18	48575132	48575132	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:48575132T>A	ENST00000342988.3	+	3	864	c.326T>A	c.(325-327)cTa>cAa	p.L109Q	SMAD4_ENST00000452201.2_Missense_Mutation_p.L109Q|SMAD4_ENST00000588745.1_Missense_Mutation_p.L109Q|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.L109Q	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(4)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			AAAAATGAACTAAAACATGTT	0.393000																								40	Whole gene deletion(36)|Unknown(4)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799226	0.90538	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.82803	-1.65;-1.65;-1.65	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.64402	D	0.000001	D	0.92906	0.7743	M	0.92833	3.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94459	0.7674	10	0.87932	D	0	.	14.5339	0.67947	0.0:0.0:0.0:1.0	.	109	Q13485	SMAD4_HUMAN	Q	109	ENSP00000409551:L109Q;ENSP00000341551:L109Q;ENSP00000381452:L109Q	ENSP00000341551:L109Q	L	+	2	0	SMAD4	46829130	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.014000	0.88676	2.053000	0.61076	0.477000	0.44152	CTA		TCGA-IB-7891-01A-11D-2201-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	33	380	0	91	1	9.583380e-01	5	57	0	91	2	1	1	60	746	0	485	2	1	1	33	378	0	91	2	0	0	0	0	0	0		-10.046060	1	1	0	0		1	0	1	1	1.865644	1	0.100000	2	0.052632	0.950000	0.790000	1.000000	0.990000	0.940438	0.950000	1	8.800000e-01	9.900000e-01
ZNF486	90649	broad.mit.edu	37	19	20308264	20308264	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:20308264T>A	ENST00000335117.8	+	4	802	c.745T>A	c.(745-747)Tac>Aac	p.Y249N	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486			11					AGTCTTTAAGTACTTCTCTAG	0.393000																								0							SO:0001583	missense			ENST00000335117.8	1	1	hg19	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	6.041	0.376005	0.11466	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.47177	0.85	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33030	0.0849	L	0.28556	0.865	0.09310	N	1	B	0.29432	0.244	B	0.38755	0.281	T	0.35822	-0.9773	9	0.30854	T	0.27	.	2.0183	0.03503	0.4435:0.2683:0.0:0.2882	.	249	Q96H40	ZN486_HUMAN	N	288;249	ENSP00000335042:Y249N	ENSP00000335042:Y249N	Y	+	1	0	ZNF486	20169264	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.996000	0.01471	-1.290000	0.02372	-1.322000	0.01289	TAC		TCGA-IB-7891-01A-11D-2201-08	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	1	0	0	23	267	0	40	0	6.302786e-01	0	26	0	40	2		0	0	0	0	0	2	1	9.999995e-01	23	266	0	39	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.964666	0	0.100000	2	0.077869	0.990000	0.940000	1.000000	1.000000	0.996341	0.990000	1	9.900000e-01	1
NLRP8	126205	broad.mit.edu	37	19	56466153	56466153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466153C>A	ENST00000291971.3	+	3	800	c.729C>A	c.(727-729)ttC>ttA	p.F243L	NLRP8_ENST00000590542.1_Missense_Mutation_p.F243L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			CTTTCTACTTCCATTGCCAAG	0.507000																								0							SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558500	0.03967	.	.	ENSG00000179709	ENST00000291971	T	0.76186	-1.0	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.46347	0.1388	N	0.05050	-0.12	0.26881	N	0.967548	B;B	0.18610	0.029;0.007	B;B	0.20577	0.018;0.03	T	0.39375	-0.9617	9	0.02654	T	1	.	7.6199	0.28179	0.0:1.0:0.0:0.0	.	243;243	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	243	ENSP00000291971:F243L	ENSP00000291971:F243L	F	+	3	2	NLRP8	61157965	0.000000	0.05858	0.039000	0.18376	0.132000	0.20833	-0.407000	0.07178	1.453000	0.47775	0.514000	0.50259	TTC		TCGA-IB-7891-01A-11D-2201-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1	120	617	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1	119	615	0	144	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	4	5	2.247689	1	0.100000	2	0.204947	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP8	126205	broad.mit.edu	37	19	56466562	56466562	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466562T>A	ENST00000291971.3	+	3	1209	c.1138T>A	c.(1138-1140)Ttg>Atg	p.L380M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L380M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			AGACCAAGTCTTGAGTTTCGC	0.478000																								0							SO:0001583	missense			ENST00000291971.3	0	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964412	0.18583	.	.	ENSG00000179709	ENST00000291971	T	0.77750	-1.12	2.04	-4.08	0.03963	.	.	.	.	.	T	0.80999	0.4732	M	0.70595	2.14	0.09310	N	1	D;D	0.76494	0.999;0.992	D;D	0.69824	0.966;0.957	T	0.69723	-0.5068	9	0.62326	D	0.03	.	1.0278	0.01531	0.1712:0.2645:0.3455:0.2188	.	380;380	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	380	ENSP00000291971:L380M	ENSP00000291971:L380M	L	+	1	2	NLRP8	61158374	0.021000	0.18746	0.000000	0.03702	0.008000	0.06430	-0.103000	0.10940	-1.828000	0.01202	-1.436000	0.01078	TTG		TCGA-IB-7891-01A-11D-2201-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	0	0	16	602	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	9.999299e-01	15	599	0	122	2	0	0	0	0	0	0		-3.391373	1	1	0	0		1	1	4	5	2.247689	1	0.100000	2	0.204947	0.620000	0.350000	1.000000	0.600000	0.653168	0.620000	0	4.700000e-01	8.500000e-01
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	7	433	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.801458e-01	7	429	0	81	2	0	0	0	0	0	0		-2.339845	0	1	0	0		1	0	0	0	1.964666	0	0.100000	2	0.077869	0.320000	0.140000	0.590000	0.300000	0.343812	0.320000	0	2.200000e-01	4.600000e-01
ADORA3	140	broad.mit.edu	37	1	112043018	112043018	+	Missense_Mutation	SNP	C	C	T	rs139935750	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:112043018C>T	ENST00000241356.4	-	2	916	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor			12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATTCTCATGACGGAAACAAAT	0.453000																								0							SO:0001583	missense			ENST00000241356.4	0	1	hg19	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147668	0.57151	2.27E-4	0.001512	ENSG00000121933	ENST00000241356	T	0.36520	1.25	5.01	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43743	0.1261	M	0.71920	2.185	0.44816	D	0.997825	D	0.59767	0.986	P	0.61800	0.894	T	0.44143	-0.9347	9	0.46703	T	0.11	.	13.1322	0.59389	0.0:0.9212:0.0:0.0787	.	171	P33765	AA3R_HUMAN	I	171	ENSP00000241356:V171I	ENSP00000241356:V171I	V	-	1	0	ADORA3	111844541	1.000000	0.71417	0.014000	0.15608	0.066000	0.16364	4.978000	0.63799	1.241000	0.43820	0.655000	0.94253	GTC		TCGA-IB-7891-01A-11D-2201-08	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	0	0	0	13	790	0	140	0	1.439858e-01	0	38	0	140	2		0	0	0	0	0	2	1	9.995237e-01	13	788	0	139	2	0	0	0	0	0	0		-2.669626	1	1	121412	51	52	1	0	0	0	1.955937	0	0.100000	2	0.074074	0.310000	0.170000	0.510000	0.310000	0.332830	0.310000	0	2.400000e-01	4.200000e-01
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:156849848C>T	ENST00000524377.1	+	16	2145	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000368196.3_Missense_Mutation_p.R696C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1			74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)			Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CATCCTGTACCGTAAGTTCAC	0.637000			T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)					Dom	yes		1	1q21-q22	4914	neurotrophic tyrosine kinase, receptor, type 1		E	0							SO:0001583	missense			ENST00000524377.1	1	1	hg19	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490712	0.64074	0.0	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000030	D	0.85305	0.5666	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.921;0.938;0.99	D	0.86696	0.1926	10	0.87932	D	0	.	11.0171	0.47696	0.1861:0.8139:0.0:0.0	.	699;696;702;666	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	666;696;702;699	ENSP00000376120:R666C;ENSP00000357179:R696C;ENSP00000431418:R702C;ENSP00000351486:R699C	ENSP00000351486:R699C	R	+	1	0	NTRK1	155116472	0.981000	0.34729	1.000000	0.80357	0.912000	0.54170	0.138000	0.16016	2.362000	0.80069	0.561000	0.74099	CGT		TCGA-IB-7891-01A-11D-2201-08	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	1	0	1	47	412	0	102	0	8.848806e-02	0	5	0	102	2		0	0	0	0	0	2	1	1	47	401	0	99	2	0	0	0	0	0	0		-2.690405	1	1	121404	7	41	1	2	2	4	2.110276	1	0.100000	2	0.151744	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PADI3	51702	broad.mit.edu	37	1	17609365	17609365	+	Missense_Mutation	SNP	C	C	A	rs147308107		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17609365C>A	ENST00000375460.3	+	16	1826	c.1786C>A	c.(1786-1788)Cac>Aac	p.H596N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III			32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	GCTGGGGAAGCACCTGGGCAT	0.627000																								0							SO:0001583	missense			ENST00000375460.3	0	1	hg19	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200613	0.22121	.	.	ENSG00000142619	ENST00000375460	T	0.21191	2.02	5.13	-0.204	0.13200	Protein-arginine deiminase, C-terminal (1);	0.384936	0.29172	N	0.012929	T	0.14399	0.0348	L	0.45228	1.405	0.33681	D	0.61211	B	0.30937	0.301	B	0.35727	0.209	T	0.29882	-0.9997	10	0.12103	T	0.63	-15.6138	5.9736	0.19367	0.0:0.2911:0.1484:0.5604	.	596	Q9ULW8	PADI3_HUMAN	N	596	ENSP00000364609:H596N	ENSP00000364609:H596N	H	+	1	0	PADI3	17481952	0.000000	0.05858	0.806000	0.32338	0.993000	0.82548	-1.294000	0.02767	-0.086000	0.12550	-0.143000	0.13931	CAC		TCGA-IB-7891-01A-11D-2201-08	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	0	0	0	7	82	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.820546e-01	7	82	0	29	2	0	0	0	0	0	0		-11.911050	1	1	0	0		1	0	0	0	1.956872	0	0.100000	2	0.074074	0.990000	0.590000	1.000000	1.000000	0.946439	0.990000	1	8.500000e-01	1
NUAK2	81788	broad.mit.edu	37	1	205273591	205273591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:205273591C>T	ENST00000367157.3	-	7	1000	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2			23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)		TCCAGGGTGGCCCGGCGGGTG	0.637000																								0							SO:0001583	missense			ENST00000367157.3	0	1	hg19	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319851	0.95682	.	.	ENSG00000163545	ENST00000367157	T	0.24908	1.83	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42172	D	0.000754	T	0.51483	0.1677	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54351	-0.8307	10	0.72032	D	0.01	.	18.1508	0.89674	0.0:1.0:0.0:0.0	.	292	Q9H093	NUAK2_HUMAN	T	292	ENSP00000356125:A292T	ENSP00000356125:A292T	A	-	1	0	NUAK2	203540214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	2.375000	0.81037	0.511000	0.50034	GCC		TCGA-IB-7891-01A-11D-2201-08	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	0	0	0	4	75	0	15	1	2.609442e-01	6	10	0	15	2		0	0	0	0	0	2	1	8.725963e-01	3	70	0	15	2	0	0	0	0	0	0		-7.990884	1	0	0	0		1	2	2	4	2.119693	1	0.100000	2	0.155722	0.990000	0.430000	1.000000	1.000000	0.920859	0.990000	1	7.700000e-01	1
PTPN14	5784	broad.mit.edu	37	1	214556939	214556939	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214556939G>A	ENST00000366956.5	-	13	2453	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					TCCTTGGACCGGGGTACTCAG	0.672000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001819	synonymous_variant			ENST00000366956.5	1	1	hg19	CCDS1514.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	0	0	0	10	348	0	86	0	1.472492e-01	1	20	0	86	2		0	0	0	0	0	2	1	9.967114e-01	10	342	0	83	2	0	0	0	0	0	0		-3.154869	1	1	121394	1	29	1	2	2	4	2.119693	1	0.100000	2	0.155722	0.680000	0.330000	1.000000	1.000000	0.715574	0.680000	0	4.700000e-01	1
KRTAP6-2	337967	broad.mit.edu	37	21	31971102	31971102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:31971102C>T	ENST00000334897.3	-	1	117	c.92G>A	c.(91-93)cGc>cAc	p.R31H	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2			11					ATAGCCACAGCGCAGGCTTCC	0.562000																								0							SO:0001583	missense			ENST00000334897.3	1	1	hg19	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	6.908	0.537123	0.13188	.	.	ENSG00000186930	ENST00000334897	T	0.31510	1.49	2.52	1.63	0.23807	.	.	.	.	.	T	0.19366	0.0465	.	.	.	0.09310	N	0.999999	B	0.28605	0.217	B	0.12837	0.008	T	0.19451	-1.0305	8	0.87932	D	0	.	5.1408	0.14957	0.0:0.8308:0.0:0.1692	.	31	Q3LI66	KRA62_HUMAN	H	31	ENSP00000334560:R31H	ENSP00000334560:R31H	R	-	2	0	KRTAP6-2	30892973	0.999000	0.42202	1.000000	0.80357	0.515000	0.34225	0.851000	0.27751	0.622000	0.30249	0.650000	0.86243	CGC		TCGA-IB-7891-01A-11D-2201-08	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3	1	0	0	29	298	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	29	288	0	91	2	0	0	0	0	0	0		-9.940024	1	1	0	0		1	1	2	3	2.009220	0	0.100000	2	0.107586	0.990000	0.990000	1.000000	1.000000	0.999915	0.990000	1	9.900000e-01	1
HOXD13	3239	broad.mit.edu	37	2	176959381	176959381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:176959381C>T	ENST00000392539.3	+	2	955	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13			6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		ATCTGAGAGACAAGTGACCAT	0.463000			T	NUP98	AML*										Dom	yes		2	2q31-q32	3239	homeo box D13		L	0							SO:0001587	stop_gained			ENST00000392539.3	0	1	hg19	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	C	33	5.265300	0.95399	.	.	ENSG00000128714	ENST00000392539	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5076	0.90902	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000376322:Q319X	Q	+	1	0	HOXD13	176667627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.687000	0.91594	0.655000	0.94253	CAA		TCGA-IB-7891-01A-11D-2201-08	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1	1	0	0	17	329	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.999647e-01	17	325	0	69	2	0	0	0	0	0	0		-18.566330	1	1	0	0		1	1	2	3	2.044923	1	0.100000	2	0.142857	0.990000	0.630000	1.000000	1.000000	0.934768	0.990000	1	8.100000e-01	1
PRKRA	8575	broad.mit.edu	37	2	179300952	179300952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:179300952C>A	ENST00000325748.4	-	7	904	c.704G>T	c.(703-705)aGt>aTt	p.S235I	AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.S224I|PRKRA_ENST00000487082.1_Missense_Mutation_p.S210I|PRKRA_ENST00000438687.3_Missense_Mutation_p.S122I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator			19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		ATTTGGAATACTAAGGAGGCT	0.338000													Melanoma(200;68 3001 23825 48764)											0							SO:0001583	missense			ENST00000325748.4	1	1	hg19	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956621	0.92726	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	M	0.62723	1.935	0.52501	D	0.999959	D;P	0.67145	0.996;0.885	P;B	0.62382	0.901;0.31	D	0.89369	0.3673	10	0.72032	D	0.01	.	17.2511	0.87042	0.0:1.0:0.0:0.0	.	235;224	O75569;O75569-2	PRKRA_HUMAN;.	I	235;122;210;224	ENSP00000318176:S235I;ENSP00000398980:S122I;ENSP00000430604:S210I;ENSP00000393883:S224I	ENSP00000318176:S235I	S	-	2	0	PRKRA	179009198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.734000	0.55037	2.822000	0.97130	0.650000	0.86243	AGT		TCGA-IB-7891-01A-11D-2201-08	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	1	0	0	43	918	0	169	0	9.767496e-01	0	127	0	169	2		0	0	0	0	0	2	1	1	43	913	0	168	2	0	0	0	0	0	0		-5.055489	1	1	0	0		1	1	2	3	2.044923	1	0.100000	2	0.142857	0.940000	0.690000	1.000000	1.000000	0.916859	0.940000	1	8.000000e-01	1
CASP8	841	broad.mit.edu	37	2	202131315	202131315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:202131315G>T	ENST00000432109.2	+	3	295	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	CASP8_ENST00000392259.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E36*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.E95*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E36*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E36*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E36*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase			52					AAGGAAGCAAGAACCCATCAA	0.468000										HNSCC(4;0.00038)			Melanoma(82;831 1348 20716 36952 40159)											0							SO:0001587	stop_gained			ENST00000432109.2	0	1	hg19	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515100	0.96402	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.47	4.56	0.56223	.	0.104160	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.3738	0.74587	0.0:0.1392:0.8607:0.0	.	.	.	.	X	36;36;36;36;36;36;36;36;36;95;36;36;36;36	.	ENSP00000264274:E36X	E	+	1	0	CASP8	201839560	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	5.578000	0.67450	2.554000	0.86153	0.561000	0.74099	GAA		TCGA-IB-7891-01A-11D-2201-08	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	1	0	1	30	270	0	61	1	9.915589e-01	18	52	0	61	2		0	0	0	0	0	2	1	1	31	269	0	61	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.033567	1	0.100000	2	0.142857	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PCDHB1	29930	broad.mit.edu	37	5	140431928	140431928	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140431928G>A	ENST00000306549.3	+	1	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	p.T291T(1)		53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TTCTCAAGACGTTTCAGATTG	0.468000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000306549.3	1	1	hg19	CCDS4243.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	1	0	0	29	280	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	27	273	0	62	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.046249	0	0.100000	2	0.115914	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
PCDHGA7	56108	broad.mit.edu	37	5	140764634	140764634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140764634G>A	ENST00000518325.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7			49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CACAAGTCACGCCTGCTGCAG	0.627000																								0							SO:0001583	missense			ENST00000518325.1	1	1	hg19	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.033890	0.35893	.	.	ENSG00000253537	ENST00000518325	T	0.51574	0.7	4.73	0.789	0.18607	.	.	.	.	.	T	0.37461	0.1004	L	0.49699	1.58	0.09310	N	1	B;B	0.20550	0.013;0.046	B;B	0.18263	0.009;0.021	T	0.31861	-0.9928	9	0.49607	T	0.09	.	5.0984	0.14747	0.5194:0.0:0.3384:0.1421	.	723;723	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	H	723	ENSP00000430024:R723H	ENSP00000430024:R723H	R	+	2	0	PCDHGA7	140744818	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.046000	0.14035	0.155000	0.19261	0.563000	0.77884	CGC		TCGA-IB-7891-01A-11D-2201-08	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	1	0	0	25	308	0	108	0	5.265428e-02	0	5	0	108	2		0	0	0	0	0	2	1	9.999998e-01	25	305	0	108	2	0	0	0	0	0	0		-8.225527	1	1	0	0		1	1	2	3	2.046249	0	0.100000	2	0.115914	0.990000	0.990000	1.000000	1.000000	0.998871	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16694499	16694499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:16694499C>T	ENST00000513610.1	-	27	4235	c.3781G>A	c.(3781-3783)Gta>Ata	p.V1261I	MYO10_ENST00000505695.1_Missense_Mutation_p.V600I|MYO10_ENST00000515803.1_Missense_Mutation_p.V600I|MYO10_ENST00000427430.2_Missense_Mutation_p.V618I|MYO10_ENST00000274203.9_Missense_Mutation_p.V618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					CGCACTTCTACGGTGCCCTTG	0.537000																								0							SO:0001583	missense			ENST00000513610.1	1	1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452233	0.01080	0.0	1.19E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.33	-6.13	0.02118	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.21307	0.0513	N	0.01800	-0.715	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.0;0.0;0.003	T	0.32981	-0.9886	9	0.02654	T	1	.	2.5747	0.04803	0.5273:0.0964:0.1871:0.1893	.	140;902;1261	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1261;600;618;600;618	ENSP00000421280:V1261I;ENSP00000425051:V600I;ENSP00000274203:V618I;ENSP00000421170:V600I;ENSP00000391106:V618I	ENSP00000274203:V618I	V	-	1	0	MYO10	16747499	0.003000	0.15002	0.024000	0.17045	0.416000	0.31233	-0.127000	0.10547	-0.714000	0.04975	-0.274000	0.10170	GTA		TCGA-IB-7891-01A-11D-2201-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	0	0	1	56	787	1	220	1	9.452486e-01	19	96	1	220	4		0	0	0	0	0	2	1	9.999999e-01	56	775	1	216	15	0	0	0	0	0	0		-10.169360	1	1	120922	3	42	1	1	2	3	2.046249	0	0.100000	2	0.115914	0.990000	0.990000	1.000000	1.000000	0.999523	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167881063	167881063	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:167881063C>T	ENST00000265293.4	+	18	3118	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	WWC1_ENST00000521089.1_Silent_p.T872T|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		aTGTTTTCACCGAGAAAGCCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000265293.4	1	1	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	2.764	-0.257209	0.05791	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	4.64	-9.28	0.00656	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7003	0.17879	0.3508:0.4177:0.0:0.2315	.	.	.	.	X	834;649	.	.	R	+	1	2	WWC1	167813641	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-1.067000	0.03451	-2.469000	0.00531	-3.152000	0.00058	CGA		TCGA-IB-7891-01A-11D-2201-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	0	33	745	0	155	1	8.630526e-01	5	77	0	155	2		0	0	0	0	0	2	1	1	33	733	0	154	2	0	0	0	0	0	0		-2.570747	1	1	121412	5	39	1	1	2	3	2.046249	0	0.100000	2	0.115914	0.920000	0.620000	1.000000	1.000000	0.891245	0.920000	1	7.500000e-01	1
TRIM7	81786	broad.mit.edu	37	5	180622634	180622634	+	Silent	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:180622634G>T	ENST00000274773.7	-	7	1129	c.1068C>A	c.(1066-1068)atC>atA	p.I356I	TRIM7_ENST00000422067.2_Silent_p.I148I|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.I148I|TRIM7_ENST00000393315.1_Silent_p.I148I|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Silent_p.I174I	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7			17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CCAGAGAGAGGATGAGGCGCG	0.662000													Esophageal Squamous(128;2258 2308 35507 48647)											0							SO:0001819	synonymous_variant			ENST00000274773.7	1	1	hg19	CCDS4462.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	0	0	0	13	437	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	9.994506e-01	13	425	0	118	2	0	0	0	0	0	0		-12.074030	1	1	0	0		1	1	2	3	2.046249	0	0.100000	2	0.115914	0.660000	0.340000	1.000000	0.580000	0.703345	0.660000	0	4.700000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152763321	152763321	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000448038.1_Silent_p.A1306A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000423061.1_Silent_p.A1306A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	p.A1299A(2)|p.A1306A(1)		524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CTCCCTGCTGCGCCTGCGCGA	0.567000										HNSCC(10;0.0054)														3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000367255.5	1	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7891-01A-11D-2201-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0	24	352	0	92	0	2.471492e-02	0	4	0	92	2		0	0	0	0	0	2	1	9.999997e-01	24	347	0	89	2	0	0	0	0	0	0		-3.318743	1	1	0	0		1	0	1	1	1.996284	0	0.100000	2	0.093656	0.990000	0.830000	1.000000	1.000000	0.987881	0.990000	1	9.900000e-01	1
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:40399611G>A	ENST00000338305.6	-	2	1784	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2			58	Ovarian(28;0.0418)|Colorectal(47;0.196)				GAGGCTCTCCGCCCCCACTGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000338305.6	1	1	hg19	CCDS34443.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	1	0	0	34	297	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	32	287	0	78	2	0	0	0	0	0	0		-12.760030	1	1	121394	11	39	1	0	1	1	1.996284	0	0.100000	2	0.093656	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7576570	7576570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7576570C>T	ENST00000379802.3	+	19	3015	c.2674C>T	c.(2674-2676)Cgt>Tgt	p.R892C	DSP_ENST00000418664.2_Missense_Mutation_p.R892C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			GAGGAATTATCGTGATAACTA	0.388000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886848	0.91814	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.35789	1.29;1.68	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.39009	0.1062	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;P	0.54706	0.642;0.759	T	0.19484	-1.0304	10	0.87932	D	0	.	15.2786	0.73764	0.1401:0.8599:0.0:0.0	.	939;892	Q4LE79;P15924	.;DESP_HUMAN	C	892;892;697	ENSP00000369129:R892C;ENSP00000396591:R892C	ENSP00000369129:R892C	R	+	1	0	DSP	7521569	0.993000	0.37304	0.991000	0.47740	0.937000	0.57800	3.174000	0.50847	2.865000	0.98341	0.655000	0.94253	CGT		TCGA-IB-7891-01A-11D-2201-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	0	0	0	9	355	0	92	1	9.203133e-01	14	163	0	92	2		0	0	0	0	0	2	1	9.941419e-01	9	352	0	92	2	0	0	0	0	0	0		-3.058334	1	1	121412	1	28	1	0	0	0	1.971046	0	0.100000	2	0.080695	0.490000	0.240000	0.840000	0.480000	0.517775	0.490000	0	3.500000e-01	6.700000e-01
DNAH11	8701	broad.mit.edu	37	7	21659575	21659575	+	Splice_Site	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:21659575T>A	ENST00000409508.3	+	25	4410	c.4379T>A	c.(4378-4380)gTt>gAt	p.V1460D	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Splice_Site_p.V1465D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					GATTACTAGGTTATTACTGAA	0.294000									Kartagener syndrome															0							SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.63	3.665050	0.67700	.	.	ENSG00000105877	ENST00000328843	T	0.60299	0.2	5.47	4.32	0.51571	Dynein heavy chain, domain-2 (1);	0.385085	0.26631	N	0.023319	T	0.49406	0.1555	.	.	.	0.58432	D	0.999999	P	0.42518	0.782	P	0.46172	0.506	T	0.32824	-0.9892	9	0.13470	T	0.59	.	9.897	0.41324	0.0:0.1423:0.0:0.8577	.	1465	Q96DT5	DYH11_HUMAN	D	1465	ENSP00000330671:V1465D	ENSP00000330671:V1465D	V	+	2	0	DNAH11	21626100	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.373000	0.59537	0.910000	0.36722	0.460000	0.39030	GTT		TCGA-IB-7891-01A-11D-2201-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	0	11	338	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.982069e-01	10	332	0	49	2	0	0	0	0	0	0		-3.519019	1	1	0	0		1	1	2	3	2.009592	0	0.100000	2	0.107586	0.680000	0.350000	1.000000	1.000000	0.711271	0.680000	0	4.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4185418	4185418	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:4185418C>T	ENST00000404826.2	+	29	4432	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	SDK1_ENST00000389531.3_Silent_p.G1431G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			TGGAGGTCGGCGCCACAGTGA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	0	26	370	0	116	1	2.711081e-01	2	13	0	116	2		0	0	0	0	0	2	1	9.999999e-01	25	368	0	113	2	0	0	0	0	0	0		-20.000000	1	1	121406	26	44	1	1	2	3	2.009592	0	0.100000	2	0.107586	0.990000	0.900000	1.000000	1.000000	0.994276	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117849313	117849313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117849313T>C	ENST00000350763.4	-	3	1108	c.697A>G	c.(697-699)Aat>Gat	p.N233D	TNC_ENST00000535648.1_Missense_Mutation_p.N233D|TNC_ENST00000346706.3_Missense_Mutation_p.N233D|TNC_ENST00000345230.3_Missense_Mutation_p.N233D|TNC_ENST00000423613.2_Missense_Mutation_p.N233D|TNC_ENST00000340094.3_Missense_Mutation_p.N233D|TNC_ENST00000341037.4_Missense_Mutation_p.N233D|TNC_ENST00000542877.1_Missense_Mutation_p.N233D|TNC_ENST00000537320.1_Missense_Mutation_p.N233D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CAGACTCCATTTACGCACTTG	0.602000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.143039	0.00332	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.01279	5.06;5.06;5.06;5.06;5.06;5.06;5.06;5.06;5.06	5.43	-5.81	0.02340	EGF, extracellular (1);Epidermal growth factor-like (1);	0.721338	0.14577	N	0.311092	T	0.00524	0.0017	N	0.04090	-0.28	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.15484	0.013;0.004	T	0.43605	-0.9381	10	0.02654	T	1	.	2.8079	0.05432	0.102:0.3463:0.2081:0.3436	.	233;233	E9PC84;P24821	.;TENA_HUMAN	D	233	ENSP00000344400:N233D;ENSP00000438152:N233D;ENSP00000344555:N233D;ENSP00000345861:N233D;ENSP00000265131:N233D;ENSP00000339553:N233D;ENSP00000411406:N233D;ENSP00000443478:N233D;ENSP00000442242:N233D	ENSP00000344400:N233D	N	-	1	0	TNC	116889134	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.053000	0.11846	-0.783000	0.04534	-0.456000	0.05471	AAT		TCGA-IB-7891-01A-11D-2201-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	0	24	363	0	120	0	9.024138e-01	0	63	0	120	2	1	1	129	1482	0	873	2	1	9.999997e-01	24	357	0	118	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.985475	0	0.100000	2	0.090909	0.990000	0.800000	1.000000	1.000000	0.983834	0.990000	1	9.900000e-01	1
CEL	1056	broad.mit.edu	37	9	135946986	135946986	+	Silent	SNP	G	G	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:135946986G>C	ENST00000372080.4	+	11	2122	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G	CEL_ENST00000351304.7_Silent_p.G633G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase			20					GTGACTCCGGGGCCCCCCCCG	0.826000																								0							SO:0001819	synonymous_variant			ENST00000372080.4	0	1	hg19	CCDS43896.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1	1	0	0	3	29	0	10	0	6.532324e-01	0	21	0	10	2		0	0	0	0	0	2		0	0	0	0	0	2	0	0	0	0	0	0		-8.378833	1	0	0	0		1	0	1	1	1.985475	0	0.100000	2	0.090909	0.990000	0.450000	1.000000	1.000000	0.930294	0.990000	1	8.100000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79319818	79319818	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:79319818G>A	ENST00000376718.3	-	8	7495	c.7372C>T	c.(7372-7374)Ctg>Ttg	p.L2458L	PRUNE2_ENST00000428286.1_Silent_p.L2099L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CGAATATGCAGCACAGCCAGC	0.493000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000376718.3	0	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.251675	0.01469	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.93	2.72	0.32119	.	.	.	.	.	T	0.25382	0.0617	.	.	.	0.25788	N	0.984653	.	.	.	.	.	.	T	0.15723	-1.0427	4	.	.	.	-8.8671	4.1216	0.10108	0.2139:0.1958:0.5903:0.0	.	.	.	.	V	1779	.	.	A	-	2	0	PRUNE2	78509638	0.055000	0.20627	0.720000	0.30636	0.073000	0.16967	0.757000	0.26433	1.483000	0.48342	0.655000	0.94253	GCT		TCGA-IB-7891-01A-11D-2201-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	0	0	3	82	0	22	0	6.907467e-02	0	9	0	22	2		0	0	0	0	0	2	1	8.087907e-01	3	81	0	22	2	0	0	0	0	0	0		-6.325588	1	0	0	0		1	0	1	1	1.999444	0	0.100000	2	0.094112	0.740000	0.220000	1.000000	1.000000	0.725274	0.740000	0	4.300000e-01	1
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	p.Q394Q(1)		43					gctgctgctgctgttgttggt	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000524145.1	0	1	hg19	CCDS48154.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	0	0	6	206	0	47	0	5.231641e-02	0	11	0	47	2	0	1.119158e-02	0	5	0	2	2	1	9.624170e-01	6	200	0	46	2	0	0	0	0	0	0		-2.550484	1	1	0	0		1	0	1	1			0.100000	2	0.100000	0.590000	0.250000	1.000000	1.000000	0.616800	0.590000	0	3.900000e-01	8.400000e-01
FLNA	2316	broad.mit.edu	37	X	153581753	153581753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:153581753G>T	ENST00000369850.3	-	37	6169	c.5933C>A	c.(5932-5934)aCg>aAg	p.T1978K	FLNA_ENST00000369856.3_Missense_Mutation_p.T111K|FLNA_ENST00000422373.1_Missense_Mutation_p.T1970K|FLNA_ENST00000344736.4_Missense_Mutation_p.T1938K|FLNA_ENST00000360319.4_Missense_Mutation_p.T1970K|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GCTGAGATCCGTCTCTGAGAT	0.632000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240312	0.39598	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	T;T;T;T;T	0.73363	0.96;0.96;0.96;-0.74;0.96	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.144833	0.46442	D	0.000290	T	0.81138	0.4760	L	0.58969	1.84	0.44603	D	0.99757	P;P;B;B	0.50617	0.924;0.937;0.059;0.059	P;P;B;B	0.53518	0.728;0.623;0.022;0.022	T	0.81854	-0.0741	10	0.54805	T	0.06	.	18.8633	0.92281	0.0:0.0:1.0:0.0	.	111;1970;1978;1978	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	K	1970;1970;1978;111;1938	ENSP00000353467:T1970K;ENSP00000416926:T1970K;ENSP00000358866:T1978K;ENSP00000358872:T111K;ENSP00000358863:T1938K	ENSP00000358863:T1938K	T	-	2	0	FLNA	153234947	1.000000	0.71417	0.883000	0.34634	0.592000	0.36648	4.226000	0.58606	2.402000	0.81655	0.436000	0.28706	ACG		TCGA-IB-7891-01A-11D-2201-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	0	32	453	0	162	0	1	1	1198	0	162	2		0	0	0	0	0	2	1	1	33	444	0	158	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.100000	2	0.100000	0.990000	0.920000	1.000000	1.000000	0.995479	0.990000	1	9.900000e-01	1
PPEF1	5475	broad.mit.edu	37	X	18797154	18797154	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:18797154G>A	ENST00000361511.4	+	10	1079	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PPEF1_ENST00000349874.5_Silent_p.P195P|PPEF1_ENST00000544635.1_Silent_p.P130P|PPEF1_ENST00000543630.1_Silent_p.P195P|PPEF1_ENST00000359763.6_Silent_p.P142P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1			43	Hepatocellular(33;0.183)				AGAGGAACCCGTATGTTTTTA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000361511.4	1	1	hg19	CCDS14188.1																																																																																				TCGA-IB-7891-01A-11D-2201-08	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	1	0	0	71	893	0	227	0	0	0	1	0	227	2		0	0	0	0	0	2	1	1	72	880	0	225	2	0	0	0	0	0	0		-13.644840	1	1	121412	4	36	1	0	1	1			0.100000	2	0.100000	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
GJB1	2705	broad.mit.edu	37	X	70444246	70444246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:70444246G>A	ENST00000374022.3	+	2	784	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GJB1_ENST00000361726.6_Missense_Mutation_p.R230H|GJB1_ENST00000374029.1_Missense_Mutation_p.R230H	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa			10	Renal(35;0.156)				CCACCTTCCCGCAAGGGCTCG	0.602000																								0		GRCh37	CM973190	GJB1	M		SO:0001583	missense			ENST00000374022.3	1	1	hg19	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055748	0.19907	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.97642	-4.47;-4.47;-4.47	4.9	4.9	0.64082	.	0.768330	0.12125	N	0.497315	D	0.93220	0.7840	N	0.14661	0.345	0.40423	D	0.979864	B	0.12013	0.005	B	0.08055	0.003	D	0.87941	0.2717	10	0.32370	T	0.25	.	17.2761	0.87115	0.0:0.0:1.0:0.0	.	230	P08034	CXB1_HUMAN	H	230	ENSP00000363141:R230H;ENSP00000363134:R230H;ENSP00000354900:R230H	ENSP00000354900:R230H	R	+	2	0	GJB1	70360971	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	4.144000	0.58057	2.260000	0.74910	0.592000	0.82586	CGC		TCGA-IB-7891-01A-11D-2201-08	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	1	0	0	9	175	0	57	0	9.877933e-01	0	153	0	57	2		0	0	0	0	0	2	1	9.874574e-01	7	145	0	43	2	0	0	0	0	0	0		-12.009730	1	1	121390	1	33	1	0	1	1			0.100000	2	0.100000	0.980000	0.490000	1.000000	1.000000	0.888600	0.980000	1	7.100000e-01	1
