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
OSBPL1A	114876	broad.mit.edu	37	18	21745087	21745087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745087delC	ENST00000319481.3	-	27	2898	c.2692delG	c.(2692-2694)gaafs	p.E898fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.E516fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.E385fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				CTTTGTTTTTCCTCAAGTCGT	0.473000																								0							SO:0001589	frameshift_variant			ENST00000319481.3	0	1	hg19	CCDS11884.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	0	58	1040	0	148	0	9.228337e-01	0	79	0	148	2	0	0	0	0	0	0		1	0.996784	67	1015	2	146	33								-6.859243	1	0	0	0		1	1	2	3	2.061329	1	0.320000	2.940000	0.413793	0.380000	0.280000	0.480000	0.390000	0.388360	0.380000	0	3.300000e-01	4.400000e-01
SLC5A3	6526	broad.mit.edu	37	21	35469260	35469274	+	In_Frame_Del	DEL	ACGGGAAATCTGAAG	ACGGGAAATCTGAAG	-	rs145773467	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:35469260_35469274delACGGGAAATCTGAAG	ENST00000381151.3	+	2	2275_2289	c.1763_1777delACGGGAAATCTGAAG	c.(1762-1779)aacgggaaatctgaagac>aac	p.GKSED589del	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_In_Frame_Del_p.GKSED589del			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			20					ATCATTCCCAACGGGAAATCTGAAGACAGCATTAA	0.465000																								0							SO:0001651	inframe_deletion			ENST00000381151.3	1	1	hg19	CCDS33549.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	0	36	393	0	89	0	9.788634e-01	0	69	0	89	2	0	0	0	0	0	0		1	1.000000	58	413	0	89	2								-10.652510	1	0	0	0		1	0	1	1	1.551330	1	0.320000	2.940000	0.196597	0.440000	0.310000	0.590000	0.440000	0.449816	0.440000	0	3.700000e-01	5.200000e-01
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3			13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)			CTCAGAAAATCGACCGATTAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000368644.1	1	1	hg19	CCDS7661.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	1	0	1	102	202	0	39	1	1	146	59	0	39	2		0	0	0	0	0	2	1	1.000000	99	200	0	39	2								-20.000000	1	1	121412	1	30	1	0	2	2	1.802623	1	0.320000	2.940000	0.320000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	ENST00000280772.2	-	37	6907	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TTCTTTAACACGCATGCCTTT	0.413000																								0							SO:0001583	missense			ENST00000280772.2	1	1	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804751	0.70682	.	.	ENSG00000151150	ENST00000280772	T	0.67523	-0.27	6.05	6.05	0.98169	.	0.000000	0.42420	D	0.000701	T	0.64000	0.2559	L	0.56769	1.78	0.80722	D	1	P	0.52577	0.954	B	0.36666	0.23	T	0.69262	-0.5191	10	0.54805	T	0.06	.	20.6032	0.99464	0.0:1.0:0.0:0.0	.	2239	Q12955	ANK3_HUMAN	H	2239	ENSP00000280772:R2239H	ENSP00000280772:R2239H	R	-	2	0	ANK3	61503929	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.811000	0.86092	2.875000	0.98604	0.643000	0.83706	CGT		TCGA-IB-7646-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	0	19	649	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	0.999990	20	645	0	90	2								-3.044431	1	1	121412	2	39	1	0	2	2	1.796771	1	0.320000	2.940000	0.320000	0.170000	0.100000	0.270000	0.180000	0.185958	0.170000	0	1.300000e-01	2.300000e-01
SEC24C	9632	broad.mit.edu	37	10	75530836	75530836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	ENST00000339365.2	+	24	3430	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				CAAGGAGATTCGGCAGCTACT	0.488000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909189	0.72868	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.64132	-0.6479	10	0.66056	D	0.02	-11.7174	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	971;1090	E7EP00;P53992	.;SC24C_HUMAN	W	338;1090;338;1090;971	ENSP00000446174:R338W;ENSP00000321845:R1090W;ENSP00000445023:R338W;ENSP00000343405:R1090W;ENSP00000402913:R971W	ENSP00000343405:R1090W	R	+	1	2	SEC24C	75200842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.767000	0.62286	2.894000	0.99253	0.591000	0.81541	CGG		TCGA-IB-7646-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	185	413	0	102	1	1	64	62	0	102	2		0	0	0	0	0	2	1	1.000000	185	408	0	102	2								-20.000000	1	1	121412	1	37	1	0	2	2	1.796771	1	0.320000	2.940000	0.320000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DRD2	1813	broad.mit.edu	37	11	113281640	113281640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:113281640C>T	ENST00000362072.3	-	8	1485	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	DRD2_ENST00000346454.3_Missense_Mutation_p.V352M|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Missense_Mutation_p.V383M|DRD2_ENST00000544518.1_Missense_Mutation_p.V380M|DRD2_ENST00000355319.2_Missense_Mutation_p.V383M|DRD2_ENST00000542968.1_Missense_Mutation_p.V381M	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2			39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGATGAACACGCCTGGGGGA	0.617000																								0							SO:0001583	missense			ENST00000362072.3	1	0	hg19	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250906	0.80135	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.66	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.111037	0.64402	D	0.000009	D	0.87947	0.6306	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.917;0.979	D	0.90416	0.4413	10	0.87932	D	0	.	15.7176	0.77681	0.1378:0.8622:0.0:0.0	.	380;352;381	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	M	383;352;381;380;381;383	ENSP00000347474:V383M;ENSP00000278597:V352M;ENSP00000354859:V381M;ENSP00000441068:V380M;ENSP00000442172:V381M;ENSP00000438215:V383M	ENSP00000278597:V352M	V	-	1	0	DRD2	112786850	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	6.075000	0.71261	1.321000	0.45227	0.655000	0.94253	GTG		TCGA-IB-7646-01A-11D-2154-08	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	1	0	0	35	257	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	35	249	0	43	2								-20.000000	1	1	121408	4	32	1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.870000	0.620000	1.000000	1.000000	0.866728	0.870000	1	7.400000e-01	1
EFEMP2	30008	broad.mit.edu	37	11	65638816	65638816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	ENST00000307998.6	-	4	409	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2			21					CTCAGGGATGGTCAGACACTC	0.642000																								0							SO:0001583	missense			ENST00000307998.6	1	1	hg19	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812097	0.70797	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.93	4.93	0.64822	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.40640	N	0.001054	D	0.94666	0.8280	M	0.69358	2.11	0.52501	D	0.999956	D;D	0.69078	0.997;0.997	D;P	0.80764	0.994;0.898	D	0.92380	0.5912	10	0.16896	T	0.51	.	15.6604	0.77182	0.0:0.0:1.0:0.0	.	60;60	E9PRU1;O95967	.;FBLN4_HUMAN	N	60	ENSP00000434151:T60N;ENSP00000309953:T60N;ENSP00000435419:T60N;ENSP00000435963:T60N	ENSP00000309953:T60N	T	-	2	0	EFEMP2	65395392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.553000	0.86117	0.655000	0.94253	ACC		TCGA-IB-7646-01A-11D-2154-08	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	1	0	1	72	528	0	92	0	1	0	267	0	92	2		0	0	0	0	0	2	1	1.000000	71	526	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.860000	0.690000	1.000000	1.000000	0.871719	0.860000	1	7.700000e-01	9.700000e-01
CTSF	8722	broad.mit.edu	37	11	66333389	66333389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	ENST00000310325.5	-	7	986	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F			19					CAGCAGGAGCCACACATGCCC	0.622000																								0							SO:0001583	missense			ENST00000310325.5	1	1	hg19	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.870856|4.870856	0.91587|0.91587	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	D|.	0.93659|.	-3.26|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Peptidase C1A, papain C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90957|0.90957	0.7157|0.7157	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94151|0.94151	0.7405|0.7405	10|5	0.87932|.	D|.	0|.	.|.	17.339|17.339	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293|.	Q9UBX1|.	CATF_HUMAN|.	C|L	293|140	ENSP00000310832:G293C|.	ENSP00000310832:G293C|.	G|W	-|-	1|2	0|0	CTSF|CTSF	66089965|66089965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.866000|4.866000	0.63005|0.63005	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GGC|TGG		TCGA-IB-7646-01A-11D-2154-08	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	1	0	1	76	174	0	32	0	1	0	119	0	32	2		0	0	0	0	0	2	1	1.000000	74	171	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRGPRF	116535	broad.mit.edu	37	11	68773653	68773653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	ENST00000309099.6	-	3	507	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F			7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		GGCCGGAGGCGGCAGCATCGC	0.632000																								0							SO:0001583	missense			ENST00000309099.6	1	1	hg19	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332758	0.41297	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.05447	3.44;3.44	4.35	4.35	0.52113	.	0.000000	0.44483	D	0.000457	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	D	0.69078	0.997	P	0.56088	0.791	T	0.36237	-0.9756	10	0.19590	T	0.45	-45.2304	12.2679	0.54689	0.0:0.0:1.0:0.0	.	42	Q96AM1	MRGRF_HUMAN	L	42	ENSP00000403660:P42L;ENSP00000309782:P42L	ENSP00000309782:P42L	P	-	2	0	MRGPRF	68530229	0.661000	0.27430	0.135000	0.22099	0.425000	0.31504	1.452000	0.35156	2.261000	0.74972	0.561000	0.74099	CCG		TCGA-IB-7646-01A-11D-2154-08	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	1	0	1	72	193	0	36	0	8.414213e-01	0	11	0	36	2		0	0	0	0	0	2	1	1.000000	70	190	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY6	5031	broad.mit.edu	37	11	73008405	73008405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	ENST00000393590.2	+	2	1141	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6			14					GCCTTTGCAGCGGCCTACAAA	0.602000																								0							SO:0001583	missense			ENST00000393590.2	1	1	hg19	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157720	0.01686	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	4.81	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.302347	0.31734	N	0.007143	T	0.03608	0.0103	N	0.02247	-0.625	0.09310	N	1	B	0.24651	0.108	B	0.16289	0.015	T	0.41875	-0.9484	10	0.02654	T	1	.	6.2522	0.20852	0.0:0.7162:0.0:0.2838	.	281	Q15077	P2RY6_HUMAN	V	281	ENSP00000443427:A281V;ENSP00000445652:A281V;ENSP00000309771:A281V;ENSP00000377217:A281V;ENSP00000377216:A281V;ENSP00000442551:A281V;ENSP00000377215:A281V;ENSP00000442990:A281V	ENSP00000309771:A281V	A	+	2	0	P2RY6	72686053	0.964000	0.33143	0.016000	0.15963	0.306000	0.27790	3.836000	0.55813	1.383000	0.46405	0.655000	0.94253	GCG		TCGA-IB-7646-01A-11D-2154-08	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1	1	0	1	64	428	0	76	0	1.318110e-01	1	4	0	76	2		0	0	0	0	0	2	1	1.000000	64	419	0	75	2								-20.000000	1	1	121396	2	41	1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.940000	0.730000	1.000000	1.000000	0.926770	0.940000	1	8.300000e-01	1
ARHGEF17	9828	broad.mit.edu	37	11	73020596	73020596	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	ENST00000263674.3	+	1	1263	c.913G>C	c.(913-915)Gac>Cac	p.D305H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17			32					ATTGGATCAGGACTGCAGGCC	0.632000																								0							SO:0001583	missense			ENST00000263674.3	1	1	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127584	0.20959	.	.	ENSG00000110237	ENST00000263674	T	0.59083	0.29	4.48	2.59	0.31030	.	0.431022	0.17191	N	0.183499	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.19679	-1.0298	10	0.29301	T	0.29	-5.789	6.67	0.23064	0.3027:0.0:0.6973:0.0	.	305	Q96PE2	ARHGH_HUMAN	H	305	ENSP00000263674:D305H	ENSP00000263674:D305H	D	+	1	0	ARHGEF17	72698244	0.179000	0.23135	0.263000	0.24496	0.767000	0.43475	2.280000	0.43443	0.353000	0.24079	0.313000	0.20887	GAC		TCGA-IB-7646-01A-11D-2154-08	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1	136	319	0	71	0	8.474749e-01	1	9	0	71	2		0	0	0	0	0	2	1	1.000000	135	313	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.069473	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUAK1	9891	broad.mit.edu	37	12	106461627	106461627	+	Silent	SNP	G	G	A	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	ENST00000261402.2	-	7	2318	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1			37					AGTCACACACGCTGCTCTTAT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000261402.2	1	1	hg19	CCDS31892.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	1	0	1	71	264	0	45	1	9.729789e-01	2	22	0	45	2		0	0	0	0	0	2	1	1.000000	71	262	0	45	2								-3.878179	1	1	121412	7	40	1	2	2	4	2.086181	0	0.320000	2.940000	0.434088	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-7646-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	22	82	0	12	1	9.990578e-01	16	30	0	12	2	1	1	123	445	0	404	2	1	1.000000	21	82	0	12	2								-16.436940	1	1	121404	2	44	1	2	2	4	2.071951	0	0.320000	2.940000	0.431058	0.990000	0.990000	1.000000	1.000000	0.999248	0.990000	1	9.900000e-01	1
PRICKLE1	144165	broad.mit.edu	37	12	42854329	42854329	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	ENST00000455697.1	-	8	2063	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)			47	all_cancers(12;4.25e-05)|Breast(8;0.176)				CTTTAAGGACTCTGCACTCCT	0.438000																								0							SO:0001583	missense			ENST00000455697.1	1	1	hg19	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284911	0.59867	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.56	5.56	0.83823	.	0.198871	0.52532	D	0.000063	T	0.62648	0.2445	L	0.61218	1.895	0.52501	D	0.999951	P	0.36222	0.544	B	0.27887	0.084	T	0.68398	-0.5419	10	0.87932	D	0	-11.3229	16.0186	0.80464	0.0:0.0:0.0:1.0	.	593	Q96MT3	PRIC1_HUMAN	G	593	ENSP00000401060:E593G;ENSP00000398947:E593G;ENSP00000448359:E593G;ENSP00000345064:E593G;ENSP00000449819:E593G	ENSP00000345064:E593G	E	-	2	0	PRICKLE1	41140596	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.756000	0.62205	2.244000	0.73946	0.528000	0.53228	GAG		TCGA-IB-7646-01A-11D-2154-08	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1	1	0	1	170	692	0	91	1	9.745311e-01	8	18	0	91	2	1	1	208	474	0	434	2	1	1.000000	166	688	0	91	2								-20.000000	1	1	0	0		1	2	2	4	2.071951	0	0.320000	2.940000	0.431058	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BEST3	144453	broad.mit.edu	37	12	70048804	70048804	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	ENST00000330891.5	-	10	2116	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3			12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		CCACAATGTTGATCCCACTGA	0.468000																								0							SO:0001583	missense			ENST00000330891.5	1	1	hg19	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473125	0.26423	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98090	-4.39;-4.71;-4.68	5.53	2.67	0.31697	.	0.874202	0.10059	N	0.721139	D	0.94006	0.8080	L	0.32530	0.975	0.09310	N	1	B;B	0.18461	0.022;0.028	B;B	0.19148	0.006;0.024	D	0.88148	0.2849	10	0.44086	T	0.13	-1.6889	5.3228	0.15891	0.2378:0.2019:0.5603:0.0	.	630;417	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	417;630;524	ENSP00000433213:I417M;ENSP00000332413:I630M;ENSP00000449548:I524M	ENSP00000332413:I630M	I	-	3	3	BEST3	68335071	0.078000	0.21339	0.076000	0.20297	0.118000	0.20060	0.955000	0.29188	1.323000	0.45263	0.563000	0.77884	ATC		TCGA-IB-7646-01A-11D-2154-08	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	1	0	1	89	269	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	89	267	0	42	2								-5.269355	1	1	0	0		1	2	2	4	2.084218	0	0.320000	2.940000	0.434088	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ING1	3621	broad.mit.edu	37	13	111368263	111368263	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	ENST00000375774.3	+	1	935	c.473A>G	c.(472-474)gAc>gGc	p.D158G	ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1			12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)		TGCAGTTCGGACCGCCTCCCG	0.711000																								0							SO:0001583	missense			ENST00000375774.3	1	1	hg19	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812678	0.02798	.	.	ENSG00000153487	ENST00000375774	T	0.55930	0.49	3.31	-2.11	0.07187	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	9	0.31617	T	0.26	.	3.314	0.07026	0.4814:0.0:0.3271:0.1915	.	158	Q9UK53	ING1_HUMAN	G	158	ENSP00000364929:D158G	ENSP00000364929:D158G	D	+	2	0	ING1	110166264	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.845000	0.00352	-0.273000	0.09246	-0.252000	0.11476	GAC		TCGA-IB-7646-01A-11D-2154-08	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	1	0	0	62	144	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1.000000	59	140	0	22	2								-20.000000	1	1	0	0		1	0	2	2	1.787785	1	0.320000	2.940000	0.320000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH6	4624	broad.mit.edu	37	14	23869987	23869987	+	Silent	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	ENST00000356287.3	-	12	1370	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_ENST00000405093.3_Silent_p.T447T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				TGGTCTCCAGGGTGGCGTTGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000356287.3	1	1	hg19	CCDS9600.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1	55	356	0	65		0	0	0	0	65	2	0	0	0	1	0	0	2	1	1.000000	54	353	0	65	2								-2.966728	1	1	0	0		1	1	2	3	2.050034	1	0.320000	2.940000	0.413793	0.960000	0.740000	1.000000	1.000000	0.940197	0.960000	1	8.500000e-01	1
LTB4R	1241	broad.mit.edu	37	14	24785420	24785420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	ENST00000396789.4	+	2	2288	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor			8					GAGGCTGTCACGGGCTTCCTG	0.667000																								0							SO:0001583	missense			ENST00000396789.4	1	1	hg19	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957500	0.53400	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.204720	0.41938	U	0.000790	T	0.37073	0.0990	N	0.25332	0.735	0.35269	D	0.780254	D	0.61697	0.99	P	0.55011	0.766	T	0.41716	-0.9493	10	0.35671	T	0.21	.	10.7916	0.46436	0.0:0.9141:0.0:0.0859	.	188	Q15722	LT4R1_HUMAN	M	188;188;88;188	ENSP00000307445:T188M;ENSP00000380008:T188M;ENSP00000451929:T88M;ENSP00000380002:T188M	ENSP00000307445:T188M	T	+	2	0	LTB4R	23855260	0.004000	0.15560	0.997000	0.53966	0.955000	0.61496	1.769000	0.38522	2.709000	0.92574	0.655000	0.94253	ACG		TCGA-IB-7646-01A-11D-2154-08	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4	1	0	1	139	333	0	55	0	5.686495e-01	1	5	0	55	2		0	0	0	0	0	2	1	1.000000	138	329	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.050034	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		GCCCCAGTCCGTGTCCAAACA	0.463000										HNSCC(30;0.082)														0							SO:0001583	missense			ENST00000298119.4	1	1	hg19	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG		TCGA-IB-7646-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	79	251	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1.000000	78	247	0	53	2								-20.000000	1	1	121412	1	30	1	2	2	4	2.084219	0	0.320000	2.940000	0.441524	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL28	54813	broad.mit.edu	37	14	45398354	45398354	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	ENST00000396128.4	-	5	1712	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KLHL28_ENST00000355081.2_Silent_p.V545V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28			22					AGTGACCACCGACGACATAAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000396128.4	1	1	hg19	CCDS9680.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3	1	0	1	88	516	0	91	0	8.817923e-01	1	23	0	91	2		0	0	0	0	0	2	1	1.000000	87	515	0	89	2								-3.222020	1	1	121410	2	35	1	2	2	4	2.084219	0	0.320000	2.940000	0.441524	0.990000	0.910000	1.000000	1.000000	0.993984	0.990000	1	9.900000e-01	1
CPSF2	53981	broad.mit.edu	37	14	92628035	92628035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	ENST00000298875.4	+	16	2581	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa			24		all_cancers(154;0.0766)			CTGCCTTTGTCAAGATTTTTA	0.318000													Ovarian(78;28 1788 18702 44111)											0							SO:0001587	stop_gained			ENST00000298875.4	0	1	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	40	8.417780	0.98803	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.7	5.7	0.88788	.	0.136439	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.6844	0.69040	0.0:0.7349:0.265:0.0	.	.	.	.	X	766	.	ENSP00000298875:Q766X	Q	+	1	0	CPSF2	91697788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.426000	0.52778	2.683000	0.91414	0.655000	0.94253	CAA		TCGA-IB-7646-01A-11D-2154-08	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	1	0	0	39	290	0	34	1	9.999885e-01	11	119	0	34	2		0	0	0	0	0	2	1	1.000000	38	289	0	34	2								-3.221908	1	1	0	0		1						0.320000	2.940000									0	0
TEKT5	146279	broad.mit.edu	37	16	10721628	10721628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	ENST00000283025.2	-	7	1341	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5			34					TGCAGGGTGTCGTCGATGGTG	0.542000																								0							SO:0001583	missense			ENST00000283025.2	0	1	hg19	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688739	0.48097	.	.	ENSG00000153060	ENST00000283025	T	0.02525	4.26	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000009	T	0.04724	0.0128	L	0.49513	1.565	0.58432	D	0.999996	B	0.25521	0.128	B	0.26517	0.07	T	0.43718	-0.9374	10	0.36615	T	0.2	-37.626	15.4575	0.75327	0.0:1.0:0.0:0.0	.	424	Q96M29	TEKT5_HUMAN	N	424	ENSP00000283025:D424N	ENSP00000283025:D424N	D	-	1	0	TEKT5	10629129	1.000000	0.71417	0.981000	0.43875	0.308000	0.27856	5.521000	0.67086	2.432000	0.82394	0.505000	0.49811	GAC		TCGA-IB-7646-01A-11D-2154-08	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	0	0	0	8	220	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.988761	8	215	0	29	2								-9.566960	1	1	121410	2	31	1	1	3	4	2.076180	1	0.320000	2.940000	0.426451	0.310000	0.130000	1.000000	0.260000	0.456251	0.310000	0	2.000000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27544625	27544625	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	ENST00000356183.4	-	5	851	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					CTCTTCCCTCAGCTTTCCCAG	0.552000																								0							SO:0001583	missense			ENST00000356183.4	1	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454282	0.84209	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28069	1.63	5.96	5.96	0.96718	.	0.082944	0.49305	D	0.000153	T	0.45296	0.1335	L	0.29908	0.895	0.48632	D	0.999681	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.43956	-0.9359	10	0.87932	D	0	-3.0653	16.1077	0.81236	1.0:0.0:0.0:0.0	.	279;279	Q12789;Q12789-3	TF3C1_HUMAN;.	R	279;277	ENSP00000348510:L279R	ENSP00000348510:L279R	L	-	2	0	GTF3C1	27452126	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.664000	0.83830	2.285000	0.76669	0.528000	0.53228	CTG		TCGA-IB-7646-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1	91	247	0	59	1	9.999644e-01	19	25	0	59	2		0	0	0	0	0	2	1	1.000000	91	243	0	58	2								-20.000000	1	1	0	0		1	1	3	4	2.095233	1	0.320000	2.940000	0.434088	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYLD	1540	broad.mit.edu	37	16	50813757	50813757	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:50813757G>A	ENST00000427738.3	+	8	1525	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000540145.1_Silent_p.L440L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)			62		all_cancers(37;0.0156)			CACTTTCTCTGTCAGCCCAGT	0.507000			Mis, N, F, S		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	ENST00000427738.3	1	1	hg19	CCDS45482.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2	1	0	1	83	492	0	108	1	9.930824e-01	14	33	0	108	2		0	0	0	0	0	2	1	1.000000	83	490	0	108	2								-20.000000	1	1	0	0		1	1	3	4	2.095233	1	0.320000	2.940000	0.434088	0.990000	0.880000	1.000000	1.000000	0.990632	0.990000	1	9.900000e-01	1
KRT38	8687	broad.mit.edu	37	17	39596736	39596736	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	ENST00000246646.3	-	1	437	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38			29		Breast(137;0.000496)			CGGGGCACACGGTGGACTCGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000246646.3	1	1	hg19	CCDS11392.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	1	0	1	132	441	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	132	436	0	86	2								-4.109453	1	1	121412	1	30	1	2	2	4	2.339107	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX40	79665	broad.mit.edu	37	17	57650476	57650476	+	Splice_Site	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	ENST00000251241.4	+	4	573		c.e4-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40			20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)				TTGAACATTAGGAGACAGCAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000251241.4	1	1	hg19	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491702	0.84962	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55005258	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.301000	0.96167	2.882000	0.98803	0.655000	0.94253	.		TCGA-IB-7646-01A-11D-2154-08	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	1	0	0	185	622	0	82	1	4.169214e-01	6	0	0	82	2		0	0	0	0	0	2	1	1.000000	161	539	0	97	2								-4.495206	1	1	0	0		1	2	2	4	2.320145	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QRICH2	84074	broad.mit.edu	37	17	74283929	74283929	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	ENST00000262765.5	-	6	3529	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2			62					CAGTTCCTTCCCTGCTTCTTG	0.562000																								0							SO:0001583	missense			ENST00000262765.5	1	1	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423478	0.25639	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.61158	2.14;0.13	4.8	2.41	0.29592	.	.	.	.	.	T	0.52901	0.1763	N	0.20986	0.625	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.58210	0.831;0.835	T	0.34477	-0.9827	9	0.33141	T	0.24	-11.7068	6.6966	0.23203	0.0:0.6871:0.0:0.3129	.	1117;1117	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	1117;125;1117	ENSP00000262765:G1117A;ENSP00000394461:G125A	ENSP00000262765:G1117A	G	-	2	0	QRICH2	71795524	0.004000	0.15560	0.622000	0.29159	0.024000	0.10985	0.401000	0.20948	1.001000	0.39076	0.462000	0.41574	GGG		TCGA-IB-7646-01A-11D-2154-08	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	0	0	0	20	451	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.999995	18	445	0	71	2								-2.780968	1	1	0	0		1	2	2	4	2.325129	1	0.320000	2.940000	0.484848	0.350000	0.210000	0.520000	0.360000	0.365462	0.350000	0	2.800000e-01	4.400000e-01
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	ENST00000269305.4	-	7	953	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000420246.2_Missense_Mutation_p.I255T|TP53_ENST00000359597.4_Missense_Mutation_p.I255T|TP53_ENST00000413465.2_Missense_Mutation_p.I255T	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.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TTCCAGTGTGATGATGGTGAG	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	44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136463	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	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);	0.058771	0.64402	D	0.000004	D	0.99704	0.9887	M	0.82630	2.6	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;0.981;0.998;0.999;1.0	D;P;D;D;D	0.87578	0.995;0.901;0.992;0.998;0.997	D	0.97329	0.9949	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	255;255;255;255;255;255;244;123	ENSP00000410739:I255T;ENSP00000352610:I255T;ENSP00000269305:I255T;ENSP00000398846:I255T;ENSP00000391127:I255T;ENSP00000391478:I255T;ENSP00000425104:I123T	ENSP00000269305:I255T	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC		TCGA-IB-7646-01A-11D-2154-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	59	161	0	49	1	1	67	38	0	49	2	1	1	341	526	0	708	2	1	1.000000	59	161	0	49	2								-20.000000	1	1	0	0		1	0	2	2	1.820247	1	0.320000	2.940000	0.320000	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OSBPL1A	114876	broad.mit.edu	37	18	21745034	21745034	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745034C>T	ENST00000319481.3	-	27	2951	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	OSBPL1A_ENST00000357041.4_Silent_p.K533K|OSBPL1A_ENST00000399443.3_Silent_p.K402K|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				CGCACCTCGTCTTCCAGTCCT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000319481.3	1	0	hg19	CCDS11884.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	0	109	964	0	167	0	9.874380e-01	0	61	0	167	2		0	0	0	0	0	2	1	1.000000	115	948	0	165	2								-20.000000	1	0	0	0		1	1	2	3	2.061329	1	0.320000	2.940000	0.413793	0.730000	0.600000	0.870000	0.730000	0.740882	0.730000	0	6.600000e-01	8.100000e-01
OSBPL1A	114876	broad.mit.edu	37	18	21745037	21745037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745037C>A	ENST00000319481.3	-	27	2948	c.2742G>T	c.(2740-2742)tgG>tgT	p.W914C	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.W532C|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.W401C|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				ACCTCGTCTTCCAGTCCTCTT	0.522000																								0							SO:0001583	missense			ENST00000319481.3	1	0	hg19	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290514	0.80914	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.41758	0.99;0.99;0.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86277	0.1665	10	0.87932	D	0	-11.1594	19.6244	0.95672	0.0:1.0:0.0:0.0	.	914	Q9BXW6	OSBL1_HUMAN	C	914;401;532	ENSP00000320291:W914C;ENSP00000382372:W401C;ENSP00000349545:W532C	ENSP00000320291:W914C	W	-	3	0	OSBPL1A	19999035	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.783000	0.85696	2.631000	0.89168	0.491000	0.48974	TGG		TCGA-IB-7646-01A-11D-2154-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	0	119	991	0	166	0	9.889558e-01	0	59	0	166	2		0	0	0	0	0	2	1	1.000000	118	971	0	163	2								-20.000000	1	0	0	0		1	1	2	3	2.061329	1	0.320000	2.940000	0.413793	0.770000	0.640000	0.910000	0.780000	0.781353	0.770000	0	7.000000e-01	8.500000e-01
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	ENST00000581347.2	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	p.R19S(1)		12					CTTGGGGGGCGGAGTGGATCC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000581347.2	0	1	hg19	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361603	0.61403	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.3	4.3	0.51218	.	0.061497	0.64402	D	0.000004	T	0.74854	0.3771	M	0.65498	2.005	0.49130	D	0.99975	D	0.89917	1.0	D	0.70935	0.971	T	0.77629	-0.2516	9	0.87932	D	0	-9.4438	12.267	0.54684	0.0:0.0:0.6997:0.3003	.	19	A6NKL6	T200C_HUMAN	C	19	.	ENSP00000372982:R19C	R	-	1	0	TMEM200C	5882008	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.903000	0.48711	2.376000	0.81061	0.557000	0.71058	CGC		TCGA-IB-7646-01A-11D-2154-08	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	1	0	1	18	127	0	17	0	8.514661e-02	0	4	0	17	2		0	0	0	0	0	2	1	0.999986	18	126	0	17	2								-3.080264	1	1	0	0		1	1	2	3	2.061329	1	0.320000	2.940000	0.413793	0.900000	0.560000	1.000000	1.000000	0.878285	0.900000	1	7.200000e-01	1
TMEM38A	79041	broad.mit.edu	37	19	16797152	16797152	+	Missense_Mutation	SNP	G	G	A	rs78725797		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:16797152G>A	ENST00000187762.2	+	5	699	c.608G>A	c.(607-609)cGc>cAc	p.R203H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A			15					CAGCAGACCCGCTGGCTCCCA	0.562000																								0							SO:0001583	missense			ENST00000187762.2	0	1	hg19	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	9.106	1.005306	0.19199	2.27E-4	0.0	ENSG00000072954	ENST00000187762	.	.	.	4.87	3.84	0.44239	.	0.110837	0.64402	D	0.000011	T	0.15349	0.0370	N	0.00869	-1.13	0.36185	D	0.849713	B	0.11235	0.004	B	0.08055	0.003	T	0.09907	-1.0653	9	0.33940	T	0.23	-42.5728	5.1808	0.15160	0.2785:0.0:0.7215:0.0	.	203	Q9H6F2	TM38A_HUMAN	H	203	.	ENSP00000187762:R203H	R	+	2	0	TMEM38A	16658152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.170000	0.58229	2.257000	0.74773	0.655000	0.94253	CGC		TCGA-IB-7646-01A-11D-2154-08	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	0	0	5	191	0	31	0	5.367631e-02	0	12	0	31	2		0	0	0	0	0	2	1	0.936663	5	189	0	31	2								-3.148671	1	1	121412	2	34	1	2	2	4	1.832396	0	0.320000	2.940000	0.357035	0.190000	0.060000	1.000000	0.170000	0.309946	0.190000	0	1.200000e-01	3.800000e-01
CKM	1158	broad.mit.edu	37	19	45818781	45818781	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	ENST00000221476.3	-	4	597	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle			17		Ovarian(192;0.0336)|all_neural(266;0.112)		Creatine(DB00148)	GTGGGGGCAACGTGTAGCCCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000221476.3	1	1	hg19	CCDS12659.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	0	21	124	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.999999	21	123	0	18	2								-20.000000	1	1	121344	20	43	1	2	2	4	1.858363	1	0.320000	2.940000	0.364723	0.990000	0.640000	1.000000	1.000000	0.930601	0.990000	1	8.100000e-01	1
MYH14	79784	broad.mit.edu	37	19	50812427	50812427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	ENST00000596571.1	+	39	5830	c.5830C>T	c.(5830-5832)Cgg>Tgg	p.R1944W	MYH14_ENST00000440075.2_Missense_Mutation_p.R1985W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle			46		all_neural(266;0.0571)|Ovarian(192;0.0728)			ACTGAGGAACCGGCTTCGGTA	0.642000																								0							SO:0001583	missense			ENST00000596571.1	1	1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854163	0.51270	0.0	1.18E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	3.69	1.35	0.21983	Myosin tail (1);	.	.	.	.	D	0.83482	0.5264	L	0.58510	1.815	0.30649	N	0.755608	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.968;0.987;0.978	T	0.78743	-0.2085	9	0.87932	D	0	.	9.3434	0.38093	0.5854:0.4146:0.0:0.0	.	1985;1944;1952	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1985;1977;1952;1728;1985	ENSP00000406273:R1985W;ENSP00000366169:R1977W;ENSP00000407879:R1952W;ENSP00000262269:R1985W	ENSP00000262269:R1985W	R	+	1	2	MYH14	55504239	0.000000	0.05858	1.000000	0.80357	0.770000	0.43624	-0.299000	0.08254	0.293000	0.22520	0.313000	0.20887	CGG		TCGA-IB-7646-01A-11D-2154-08	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1	48	322	0	79	1	7.762845e-01	11	10	0	79	2		0	0	0	0	0	2	1	1.000000	48	318	0	79	2								-2.807013	1	1	0	0		1	2	2	4	1.858363	1	0.320000	2.940000	0.364723	0.890000	0.660000	1.000000	1.000000	0.888921	0.890000	1	7.600000e-01	1
ADAMTS10	81794	broad.mit.edu	37	19	8666006	8666006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	ENST00000597188.1	-	6	886	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10			53					AGCCACCATGGCCGCCCTTTC	0.627000																								0							SO:0001583	missense			ENST00000597188.1	1	1	hg19	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757132	0.31137	.	.	ENSG00000142303	ENST00000270328	T	0.59502	0.26	5.47	5.47	0.80525	.	0.254626	0.32401	N	0.006146	T	0.47210	0.1433	L	0.34521	1.04	0.28790	N	0.899372	B	0.06786	0.001	B	0.08055	0.003	T	0.24621	-1.0155	10	0.12766	T	0.61	.	18.3275	0.90259	0.0:0.0:1.0:0.0	.	206	Q9H324	ATS10_HUMAN	T	206	ENSP00000270328:P206T	ENSP00000270328:P206T	P	-	1	0	ADAMTS10	8572006	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.922000	0.56462	2.575000	0.86900	0.555000	0.69702	CCA		TCGA-IB-7646-01A-11D-2154-08	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	1	0	1	33	179	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	32	175	0	32	2								-20.000000	1	1	0	0		1	2	2	4	1.862622	1	0.320000	2.940000	0.366617	0.990000	0.750000	1.000000	1.000000	0.966347	0.990000	1	9.000000e-01	1
USH2A	7399	broad.mit.edu	37	1	216496975	216496975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	ENST00000307340.3	-	8	1777	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_ENST00000366943.2_Missense_Mutation_p.R464H|USH2A_ENST00000366942.3_Missense_Mutation_p.R464H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					GTATCCAGGACGATAATTTGG	0.373000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143821	0.94603	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.25579	2.16;2.15;1.79	5.23	5.23	0.72850	Laminin, N-terminal (3);	0.000000	0.42420	D	0.000719	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	T	0.72093	-0.4394	10	0.87932	D	0	.	18.8157	0.92076	0.0:1.0:0.0:0.0	.	464;464	O75445-2;O75445	.;USH2A_HUMAN	H	464	ENSP00000305941:R464H;ENSP00000355910:R464H;ENSP00000355909:R464H	ENSP00000305941:R464H	R	-	2	0	USH2A	214563598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.485000	0.66850	2.424000	0.82194	0.655000	0.94253	CGT		TCGA-IB-7646-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	179	648	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	179	641	0	82	2								-20.000000	1	1	121410	3	41	1	3	3	6	2.355163	1	0.320000	2.940000	0.499411	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1C1	26188	broad.mit.edu	37	1	247920822	247920822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	ENST00000408896.2	-	1	1160	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1			46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		CCTCTTCATATCCCTGTTCCT	0.428000																								0							SO:0001583	missense			ENST00000408896.2	1	1	hg19	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	T	9.331	1.060439	0.19987	.	.	ENSG00000221888	ENST00000408896	T	0.39592	1.07	3.22	0.691	0.18045	.	.	.	.	.	T	0.59500	0.2198	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.49854	-0.8895	9	0.87932	D	0	.	9.657	0.39932	0.0:0.0:0.3383:0.6617	.	296	Q15619	OR1C1_HUMAN	G	296	ENSP00000386138:D296G	ENSP00000386138:D296G	D	-	2	0	OR1C1	245987445	0.376000	0.25098	0.048000	0.18961	0.024000	0.10985	2.018000	0.40991	0.017000	0.15025	-1.419000	0.01111	GAT		TCGA-IB-7646-01A-11D-2154-08	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1	1	0	1	143	560	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	143	554	0	82	2								-20.000000	1	1	0	0		1	2	2	4	2.321657	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MATN4	8785	broad.mit.edu	37	20	43933094	43933094	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	ENST00000372754.1	-	2	425	c.417G>A	c.(415-417)ccG>ccA	p.P139P	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4			27		Myeloproliferative disorder(115;0.0122)			CAGCGACACGCGGCACGCGCT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000372754.1	1	1	hg19																																																																																					TCGA-IB-7646-01A-11D-2154-08	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	1	0	1	32	65	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	1.000000	31	65	0	12	2								-20.000000	1	1	119296	1	25	1	2	2	4	2.292060	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ2	128553	broad.mit.edu	37	20	51870106	51870106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	ENST00000371497.5	+	2	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		ggaggaCAGCGGTTCAGTAGC	0.532000																								0							SO:0001583	missense			ENST00000371497.5	1	1	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239845	0.10023	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14022	2.55;2.54	5.7	4.66	0.58398	.	0.302267	0.35615	N	0.003083	T	0.08670	0.0215	L	0.29908	0.895	0.30185	N	0.800061	B	0.19200	0.034	B	0.08055	0.003	T	0.04900	-1.0919	10	0.48119	T	0.1	-17.7222	3.7522	0.08570	0.3374:0.0:0.6626:0.0	.	37	Q9NRE2	TSH2_HUMAN	S	37;34	ENSP00000360552:G37S;ENSP00000333114:G34S	ENSP00000333114:G34S	G	+	1	0	TSHZ2	51303513	0.992000	0.36948	0.935000	0.37517	0.345000	0.29048	2.759000	0.47573	2.685000	0.91497	0.643000	0.83706	GGT		TCGA-IB-7646-01A-11D-2154-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1	46	162	0	23	0	5.607157e-01	1	7	0	23	2		0	0	0	0	0	2	1	1.000000	46	161	0	23	2								-20.000000	1	1	121412	5	38	1	2	2	4	2.292060	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHACTR3	116154	broad.mit.edu	37	20	58342409	58342409	+	Missense_Mutation	SNP	C	C	T	rs139799389	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:58342409C>T	ENST00000371015.1	+	5	1177	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P196L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P234L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P196L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P196L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3			59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		CTGCCCACTCCGCCACCCAAG	0.587000																								0							SO:0001583	missense			ENST00000371015.1	1	0	hg19	CCDS13480.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.73	2.621533	0.46736	2.27E-4	0.00186	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23147	1.92;1.93;1.93;1.93;1.93	4.7	4.7	0.59300	.	0.109577	0.64402	D	0.000006	T	0.24774	0.0601	M	0.63428	1.95	0.80722	D	1	P;B	0.38300	0.626;0.42	B;B	0.25506	0.059;0.061	T	0.11792	-1.0573	10	0.42905	T	0.14	-17.6812	16.6343	0.85042	0.0:1.0:0.0:0.0	.	237;234	Q96KR7;B1AKX0	PHAR3_HUMAN;.	L	234;237;196;196;196	ENSP00000353002:P234L;ENSP00000360054:P237L;ENSP00000442483:P196L;ENSP00000347866:P196L;ENSP00000378998:P196L	ENSP00000347866:P196L	P	+	2	0	PHACTR3	57775804	0.986000	0.35501	0.836000	0.33094	0.972000	0.66771	3.474000	0.53129	2.166000	0.68216	0.460000	0.39030	CCG		TCGA-IB-7646-01A-11D-2154-08	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	0	0	1	55	201	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	55	200	0	28	2								-2.761986	1	1	121406	74	48	1	2	2	4	2.292060	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A3	6526	broad.mit.edu	37	21	35469256	35469256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:35469256C>T	ENST00000381151.3	+	2	2271	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.P587S			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			20					CCACATCATTCCCAACGGGAA	0.473000																								0							SO:0001583	missense			ENST00000381151.3	1	0	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422391	0.43020	.	.	ENSG00000198743	ENST00000381151	D	0.85556	-2.0	6.06	6.06	0.98353	.	0.578471	0.16748	N	0.201173	T	0.76499	0.3996	L	0.34521	1.04	0.41674	D	0.989258	B	0.30326	0.276	B	0.21917	0.037	T	0.71199	-0.4663	10	0.14656	T	0.56	.	14.4021	0.67053	0.0:0.9291:0.0:0.0709	.	587	P53794	SC5A3_HUMAN	S	587	ENSP00000370543:P587S	ENSP00000370543:P587S	P	+	1	0	SLC5A3	34391126	0.999000	0.42202	0.985000	0.45067	0.966000	0.64601	1.925000	0.40074	2.885000	0.99019	0.643000	0.83706	CCC		TCGA-IB-7646-01A-11D-2154-08	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	1	52	310	0	93	1	2.140893e-01	3	3	0	93	2		0	0	0	0	0	2	1	1.000000	57	308	0	92	2								-19.999420	1	0	0	0		1	0	1	1	1.551330	1	0.320000	2.940000	0.196597	0.750000	0.570000	0.940000	0.750000	0.760343	0.750000	0	6.600000e-01	8.500000e-01
FN1	2335	broad.mit.edu	37	2	216288871	216288871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	ENST00000359671.1	-	8	1479	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000354785.4_Missense_Mutation_p.T405I			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	ACACTCACCAGTGTGGTCTGT	0.488000																								0							SO:0001583	missense			ENST00000359671.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068483	0.76301	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.14;2.32;0.86;2.38;2.02;2.36;2.02;2.31;2.06;1.55;0.85;1.45;1.47	5.97	5.97	0.96955	.	0.537042	0.19271	N	0.118405	T	0.51822	0.1697	L	0.29908	0.895	0.36489	D	0.868311	B;P;B;D;B;B;P;P;B;B;P	0.60575	0.073;0.839;0.198;0.988;0.265;0.173;0.511;0.843;0.265;0.265;0.715	B;P;B;P;B;B;B;B;B;B;B	0.60609	0.083;0.452;0.135;0.877;0.13;0.061;0.239;0.128;0.13;0.13;0.39	T	0.59156	-0.7507	10	0.66056	D	0.02	.	10.327	0.43798	0.0:0.1207:0.6964:0.1828	.	405;405;405;405;405;405;405;405;405;405;405	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	405	ENSP00000394423:T405I;ENSP00000323534:T405I;ENSP00000338200:T405I;ENSP00000350534:T405I;ENSP00000346839:T405I;ENSP00000352696:T405I;ENSP00000265312:T405I;ENSP00000273049:T405I;ENSP00000349509:T405I;ENSP00000410422:T405I;ENSP00000415018:T405I;ENSP00000399538:T405I;ENSP00000348285:T405I;ENSP00000398907:T405I	ENSP00000265313:T405I	T	-	2	0	FN1	215997116	0.995000	0.38212	0.985000	0.45067	0.985000	0.73830	2.437000	0.44828	2.836000	0.97738	0.655000	0.94253	ACT		TCGA-IB-7646-01A-11D-2154-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	1	134	545	0	75	0	1	0	6381	0	75	2		0	0	0	0	0	2	1	1.000000	133	536	0	75	2								-20.000000	1	1	0	0		1	2	2	4	2.161681	1	0.320000	2.940000	0.454429	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119121128	119121128	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	ENST00000264245.4	+	10	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					ACGCCGTGCAGAACACCCCCG	0.592000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904142	0.92035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.18657	2.2	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.16512	-1.0400	10	0.42905	T	0.14	.	18.1871	0.89796	0.0:0.0:1.0:0.0	.	510	Q2M1Z3	RHG31_HUMAN	T	510	ENSP00000264245:R510T	ENSP00000264245:R510T	R	+	2	0	ARHGAP31	120603818	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	9.263000	0.95617	2.774000	0.95407	0.655000	0.94253	AGA		TCGA-IB-7646-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0	0	0	12	408	0	86	0	7.855959e-02	1	14	0	86	2		0	0	0	0	0	2	1	0.999117	12	406	0	86	2								-11.358160	1	1	0	0		1	2	2	4	2.335509	1	0.320000	2.940000	0.484848	0.240000	0.120000	0.390000	0.240000	0.253511	0.240000	0	1.700000e-01	3.200000e-01
TRIM42	287015	broad.mit.edu	37	3	140397360	140397360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	ENST00000286349.3	+	1	480	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42			69					CCGCTGCTGCCGCAATACCAT	0.542000																								0							SO:0001583	missense			ENST00000286349.3	1	1	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000155890	ENST00000286349	T	0.18810	2.19	5.15	2.12	0.27331	.	0.000000	0.48767	D	0.000162	T	0.16981	0.0408	N	0.14661	0.345	0.42892	D	0.994201	D	0.76494	0.999	P	0.54924	0.764	T	0.04053	-1.0981	10	0.66056	D	0.02	-23.7362	5.0235	0.14372	0.3777:0.5241:0.0:0.0982	.	97	Q8IWZ5	TRI42_HUMAN	C	97	ENSP00000286349:R97C	ENSP00000286349:R97C	R	+	1	0	TRIM42	141880050	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	1.466000	0.35310	1.262000	0.44165	0.655000	0.94253	CGC		TCGA-IB-7646-01A-11D-2154-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	63	248	0	31		0	0	0	0	31	2	1	1	425	1413	1	1288	7	1	1.000000	63	244	0	30	2								-3.439551	1	1	121342	5	35	1	2	2	4	2.335509	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PTPN23	25930	broad.mit.edu	37	3	47453870	47453870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:47453870C>T	ENST00000265562.4	+	23	4353	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	p.R1426W(1)		23					TCAGCTGGTGCGGCGCATGCG	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265562.4	0	1	hg19	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559102	0.45590	.	.	ENSG00000076201	ENST00000265562	D	0.84146	-1.81	3.99	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.315773	0.26304	N	0.025156	D	0.86377	0.5918	L	0.49571	1.57	0.32817	D	0.502271	D	0.76494	0.999	P	0.57846	0.828	D	0.87764	0.2600	10	0.56958	D	0.05	-21.5748	9.5586	0.39355	0.5458:0.4541:0.0:0.0	.	1426	Q9H3S7	PTN23_HUMAN	W	1426	ENSP00000265562:R1426W	ENSP00000265562:R1426W	R	+	1	2	PTPN23	47428874	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.491000	0.35583	0.813000	0.34350	0.563000	0.77884	CGG		TCGA-IB-7646-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	0	0	5	198	0	46	0	6.713330e-01	0	86	0	46	2		0	0	0	0	0	2	1	0.936688	5	196	0	46	2								-3.447885	1	1	121390	1	27	1	0	2	2	1.781462	1	0.320000	2.940000	0.320000	0.160000	0.060000	0.330000	0.160000	0.181005	0.160000	0	1.000000e-01	2.500000e-01
APPL1	26060	broad.mit.edu	37	3	57282266	57282266	+	Silent	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	ENST00000288266.3	+	10	897	c.750A>C	c.(748-750)acA>acC	p.T250T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1			27					TGCAACAGACAATAGAGGATT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000288266.3	1	1	hg19	CCDS2882.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	1	0	1	154	463	0	55	1	9.999991e-01	20	42	0	55	2		0	0	0	0	0	2	1	1.000000	154	459	0	54	2								-20.000000	1	1	0	0		1	2	2	4	2.335423	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF2	9693	broad.mit.edu	37	4	160260455	160260455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	ENST00000264431.4	+	13	2419	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				AAACAAAGAAGACTTCCAGAT	0.438000																								0							SO:0001583	missense			ENST00000264431.4	1	1	hg19	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766898	0.90020	.	.	ENSG00000109756	ENST00000264431	T	0.30182	1.54	5.18	5.18	0.71444	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	10	0.87932	D	0	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	667	Q9Y4G8	RPGF2_HUMAN	I	667	ENSP00000264431:R667I	ENSP00000264431:R667I	R	+	2	0	RAPGEF2	160479905	1.000000	0.71417	0.020000	0.16555	0.929000	0.56500	9.726000	0.98782	2.571000	0.86741	0.591000	0.81541	AGA		TCGA-IB-7646-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1	48	664	0	114	1	4.256963e-01	8	13	0	114	2		0	0	0	0	0	2	1	1.000000	48	660	0	113	2								-10.116810	1	1	0	0		1	1	2	3	1.979019	0	0.320000	2.940000	0.395448	0.490000	0.350000	1.000000	0.470000	0.566109	0.490000	0	4.100000e-01	1
CPE	1363	broad.mit.edu	37	4	166418730	166418730	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:166418730T>C	ENST00000402744.4	+	9	1679	c.1399T>C	c.(1399-1401)Tgg>Cgg	p.W467R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E			26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	GATGGAATGGTGGAAAATGAT	0.289000																								0							SO:0001583	missense			ENST00000402744.4	1	1	hg19	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280597	0.59758	.	.	ENSG00000109472	ENST00000402744	T	0.12774	2.65	6.08	6.08	0.98989	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01829	-1.1265	10	0.87932	D	0	-11.282	16.643	0.85134	0.0:0.0:0.0:1.0	.	467	P16870	CBPE_HUMAN	R	467	ENSP00000386104:W467R	ENSP00000386104:W467R	W	+	1	0	CPE	166638180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.330000	0.79161	0.533000	0.62120	TGG		TCGA-IB-7646-01A-11D-2154-08	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	1	0	0	13	286	0	51	0	9.989164e-01	0	260	0	51	2		0	0	0	0	0	2	1	0.999553	13	285	0	51	2								-4.371902	1	1	0	0		1	1	2	3	1.911743	0	0.320000	2.940000	0.364723	0.330000	0.170000	1.000000	0.290000	0.474326	0.330000	0	2.300000e-01	1
CCKAR	886	broad.mit.edu	37	4	26491074	26491074	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	ENST00000295589.3	-	2	339	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor			29		Breast(46;0.0503)		Ceruletide(DB00403)	AATATCAAGGAGTACAAGAGA	0.547000																								0							SO:0001583	missense			ENST00000295589.3	1	1	hg19	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.049	0.991544	0.18966	.	.	ENSG00000163394	ENST00000295589	T	0.37752	1.18	5.24	4.03	0.46877	.	0.310205	0.34986	N	0.003532	T	0.17831	0.0428	N	0.12502	0.225	0.32321	N	0.562438	B	0.16166	0.016	B	0.20184	0.028	T	0.25813	-1.0121	10	0.02654	T	1	.	11.3334	0.49490	0.8638:0.0:0.0:0.1362	.	49	P32238	CCKAR_HUMAN	A	49	ENSP00000295589:S49A	ENSP00000295589:S49A	S	-	1	0	CCKAR	26100172	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.999000	0.57031	0.796000	0.33947	0.459000	0.35465	TCC		TCGA-IB-7646-01A-11D-2154-08	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	1	0	0	44	401	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	43	398	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.977537	0	0.320000	2.940000	0.397163	0.720000	0.520000	1.000000	0.700000	0.751564	0.720000	0	6.100000e-01	9.600000e-01
GABRB1	2560	broad.mit.edu	37	4	47322169	47322169	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	ENST00000295454.3	+	5	779	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1			44				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCATGTATGATGGATCTTCG	0.423000																								0							SO:0001583	missense			ENST00000295454.3	1	1	hg19	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	31	5.067721	0.93950	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78707	-1.2;-1.2	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.196139	0.44285	D	0.000466	T	0.81394	0.4813	L	0.43554	1.36	0.58432	D	0.999998	D;P	0.57257	0.979;0.699	P;P	0.60345	0.873;0.833	T	0.82839	-0.0259	10	0.62326	D	0.03	-26.9689	13.0442	0.58916	1.0:0.0:0.0:0.0	.	93;163	F5GXV5;P18505	.;GBRB1_HUMAN	L	163;93	ENSP00000295454:M163L;ENSP00000440330:M93L	ENSP00000295454:M163L	M	+	1	0	GABRB1	47016926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.665000	0.91144	2.178000	0.69098	0.477000	0.44152	ATG		TCGA-IB-7646-01A-11D-2154-08	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	0	18	275	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.999984	18	274	0	58	2								-5.929462	1	1	0	0		1	1	2	3	1.977537	0	0.320000	2.940000	0.397163	0.460000	0.270000	1.000000	0.430000	0.534842	0.460000	0	3.500000e-01	7.200000e-01
IGJ	3512	broad.mit.edu	37	4	71522118	71522118	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	ENST00000254801.4	-	4	577	c.408C>A	c.(406-408)gtC>gtA	p.V136V	IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides			7			Lung(101;0.235)		ATACGAGTGGGACCACAGCTG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000254801.4	1	1	hg19	CCDS3545.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	1	0	1	74	224	0	51	0	9.999450e-01	0	47	0	51	2		0	0	0	0	0	2	1	1.000000	73	224	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.979019	0	0.320000	2.940000	0.395448	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6			57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408000										TCGA Ovarian(5;0.080)														0							SO:0001583	missense			ENST00000274545.5	1	1	hg19	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-7646-01A-11D-2154-08	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0	0	1	128	444	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	127	441	0	66	2								-3.685264	1	1	121412	4	39	1	1	2	3	2.067916	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BVES	11149	broad.mit.edu	37	6	105563588	105563588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	ENST00000314641.5	-	7	1147	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_ENST00000446408.2_Missense_Mutation_p.R311W|BVES_ENST00000336775.5_Missense_Mutation_p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	p.R311W(1)		21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)			GAGGTACCCCGAAGAAACTGG	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000314641.5	1	1	hg19	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884860	0.72410	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.29397	1.57;1.57;1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.55990	1.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.29822	-0.9999	10	0.72032	D	0.01	-21.4302	15.137	0.72576	0.0:0.0:0.8587:0.1413	.	311	Q8NE79	POPD1_HUMAN	W	311	ENSP00000313172:R311W;ENSP00000337259:R311W;ENSP00000397310:R311W	ENSP00000313172:R311W	R	-	1	2	BVES	105670281	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	3.314000	0.51943	2.822000	0.97130	0.563000	0.77884	CGG		TCGA-IB-7646-01A-11D-2154-08	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	1	0	1	70	390	0	83	0	1.723761e-01	0	5	0	83	2		0	0	0	0	0	2	1	1.000000	69	386	0	82	2								-3.077796	1	1	121412	2	42	1	1	2	3	1.781456	0	0.320000	2.940000	0.329653	0.970000	0.760000	1.000000	1.000000	0.945027	0.970000	1	8.600000e-01	1
IL20RA	53832	broad.mit.edu	37	6	137323435	137323435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	ENST00000316649.5	-	7	1157	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000367748.1_Missense_Mutation_p.V197M	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha			27	Colorectal(23;0.24)				AAGTTAATCACGATTTTTTCA	0.318000																								0							SO:0001583	missense			ENST00000316649.5	1	1	hg19	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473496	0.26423	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62364	0.29;1.74;0.03	5.79	-1.79	0.07932	.	0.528864	0.18758	N	0.131980	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	1	P;P	0.40230	0.708;0.669	B;B	0.28305	0.088;0.046	T	0.15292	-1.0442	10	0.46703	T	0.11	-2.8981	6.3867	0.21563	0.0:0.478:0.1229:0.3991	.	197;308	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	M	308;197;259	ENSP00000314976:V308M;ENSP00000356722:V197M;ENSP00000437843:V259M	ENSP00000314976:V308M	V	-	1	0	IL20RA	137365128	0.845000	0.29573	0.013000	0.15412	0.940000	0.58332	0.935000	0.28924	-0.331000	0.08501	-0.777000	0.03380	GTG		TCGA-IB-7646-01A-11D-2154-08	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	1	0	1	40	210	0	40	1	3.191575e-01	3	4	0	40	2		0	0	0	0	0	2	1	1.000000	40	209	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.778247	0	0.320000	2.940000	0.329653	0.990000	0.750000	1.000000	1.000000	0.956409	0.990000	1	8.700000e-01	1
PXT1	222659	broad.mit.edu	37	6	36368236	36368236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	ENST00000454782.2	-	4	778	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1								CTCACCTCTCGAACCATCCTA	0.493000																								0							SO:0001587	stop_gained			ENST00000454782.2	0	1	hg19	CCDS4820.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.886637	0.98542	.	.	ENSG00000179165	ENST00000454782;ENST00000538109	.	.	.	4.9	4.01	0.46588	.	0.919982	0.08824	N	0.888375	.	.	.	.	.	.	0.49915	D	0.999834	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0883	10.898	0.47034	0.0:0.1901:0.8099:0.0	.	.	.	.	X	99;16	.	ENSP00000419944:R99X	R	-	1	2	PXT1	36476214	0.069000	0.21087	0.259000	0.24435	0.603000	0.37013	1.193000	0.32162	1.250000	0.43966	0.555000	0.69702	CGA		TCGA-IB-7646-01A-11D-2154-08	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	1	0	1	75	353	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1.000000	74	348	0	69	2								-3.367243	1	1	121412	11	44	1	1	2	3	1.787259	0	0.320000	2.940000	0.330709	0.990000	0.890000	1.000000	1.000000	0.991920	0.990000	1	9.900000e-01	1
TMEM30A	55754	broad.mit.edu	37	6	75965841	75965841	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	ENST00000230461.6	-	7	1392	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D|TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A			21					TCAGCTGTATTACTACTGTTT	0.358000																								0							SO:0001583	missense			ENST00000230461.6	1	1	hg19	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523412	0.64747	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.77	5.77	0.91146	.	0.082960	0.85682	D	0.000000	T	0.34135	0.0887	L	0.45228	1.405	0.50171	D	0.999851	B;B	0.09022	0.002;0.002	B;B	0.17433	0.006;0.018	T	0.36578	-0.9742	9	0.05525	T	0.97	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	319;355	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	D	355;339;236;319	.	ENSP00000230461:N355D	N	-	1	0	TMEM30A	76022561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT		TCGA-IB-7646-01A-11D-2154-08	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	1	0	1	30	165	0	24	1	1	104	231	0	24	2		0	0	0	0	0	2	1	1.000000	30	164	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.781456	0	0.320000	2.940000	0.329653	0.990000	0.680000	1.000000	1.000000	0.933726	0.990000	1	8.200000e-01	1
DPP6	1804	broad.mit.edu	37	7	154596629	154596629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	ENST00000377770.3	+	15	1643	c.1502A>G	c.(1501-1503)tAc>tGc	p.Y501C	DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000404039.1_Missense_Mutation_p.Y437C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6			71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		CTTTGCAGCTACTTCCTGAGC	0.577000													NSCLC(125;1384 1783 2490 7422 34254)											0							SO:0001583	missense			ENST00000377770.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092541	0.76756	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056551	0.64402	D	0.000001	T	0.73560	0.3602	H	0.95780	3.72	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81904	-0.0719	10	0.87932	D	0	-22.1949	13.0759	0.59087	1.0:0.0:0.0:0.0	.	394;439;501;437	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	437;501;439;394	ENSP00000385578:Y437C;ENSP00000367001:Y501C;ENSP00000328226:Y439C;ENSP00000397303:Y394C	ENSP00000328226:Y439C	Y	+	2	0	DPP6	154227562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.947000	0.75959	2.018000	0.59344	0.529000	0.55759	TAC		TCGA-IB-7646-01A-11D-2154-08	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	1	0	1	11	34	0	12	0	1.679331e-01	0	3	0	12	2		0	0	0	0	0	2	1	0.999034	11	34	0	12	2								-19.998920	1	1	0	0		1	0	2	2	1.768284	1	0.320000	2.940000	0.320000	0.990000	0.830000	1.000000	1.000000	0.990012	0.990000	1	9.900000e-01	1
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	ENST00000242208.4	-	3	968	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A			55					ACAGGCAATCCGAACGTCCAG	0.572000										TSP Lung(11;0.080)														0							SO:0001583	missense			ENST00000242208.4	1	1	hg19	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	36	5.853696	0.97030	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62788	0.0;0.0	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.431115	0.26859	N	0.022126	T	0.73118	0.3546	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.67352	-0.5692	10	0.33141	T	0.24	-20.8404	20.6208	0.99490	0.0:1.0:0.0:0.0	.	241	P08476	INHBA_HUMAN	Q	241	ENSP00000242208:R241Q;ENSP00000397197:R241Q	ENSP00000242208:R241Q	R	-	2	0	INHBA	41696332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.882000	0.98803	0.655000	0.94253	CGG		TCGA-IB-7646-01A-11D-2154-08	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1	1	0	1	43	196	0	37	0	1	0	441	0	37	2		0	0	0	0	0	2	1	1.000000	43	192	0	37	2								-3.083655	1	1	121412	1	31	1	2	2	4	2.290144	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
GLI3	2737	broad.mit.edu	37	7	42079807	42079807	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	ENST00000395925.3	-	7	942	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					GGCTCGGCCTGGCTGACAGCC	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															0							SO:0001819	synonymous_variant	Familial Cancer Database	;	ENST00000395925.3	1	1	hg19	CCDS5465.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	1	50	433	0	63	0	1.255287e-01	0	6	0	63	2		0	0	0	0	0	2	1	1.000000	50	430	0	63	2								-16.432610	1	1	0	0		1	2	2	4	2.290144	1	0.320000	2.940000	0.484848	0.850000	0.640000	1.000000	1.000000	0.857625	0.850000	1	7.400000e-01	9.800000e-01
POM121L12	285877	broad.mit.edu	37	7	53104077	53104077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	ENST00000408890.4	+	1	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12			61					CCTCTGAAGCCGAGCCTCGGC	0.652000																								0							SO:0001583	missense			ENST00000408890.4	1	1	hg19	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091246	0.07053	2.55E-4	0.0	ENSG00000221900	ENST00000408890	T	0.10860	2.83	1.84	-3.67	0.04476	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	P	0.49635	0.926	P	0.45037	0.467	T	0.19353	-1.0308	9	0.51188	T	0.08	.	5.1209	0.14860	0.4429:0.2886:0.2685:0.0	.	238	Q8N7R1	P1L12_HUMAN	L	238	ENSP00000386133:P238L	ENSP00000386133:P238L	P	+	2	0	POM121L12	53071571	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.714000	0.01881	-2.499000	0.00511	-1.083000	0.02208	CCG		TCGA-IB-7646-01A-11D-2154-08	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	1	0	0	93	301	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1.000000	93	299	0	43	2								-20.000000	1	1	0	0		1	2	2	4	2.290144	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP42	84132	broad.mit.edu	37	7	6189801	6189801	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	ENST00000306177.5	+	13	2132	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42			35		Ovarian(82;0.0423)			TGACCCTAAACGGTGCTAATA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000306177.5	1	1	hg19	CCDS47535.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	1	0	1	34	135	0	24	1	8.317724e-01	9	6	0	24	2		0	0	0	0	0	2	1	1.000000	34	134	0	23	2								-20.000000	1	1	0	0		1	2	2	4	2.309781	1	0.320000	2.940000	0.484848	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
SLC30A8	169026	broad.mit.edu	37	8	118165302	118165302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	ENST00000456015.2	+	3	391	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SLC30A8_ENST00000427715.2_Missense_Mutation_p.R82W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8			41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)		TCCCTCTAAGCGGCTGACATT	0.507000													Ovarian(162;1202 1922 6011 16223 52092)											0							SO:0001583	missense			ENST00000456015.2	1	1	hg19	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024966	0.54683	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.37	0.822	0.18806	.	0.812377	0.11451	N	0.562795	T	0.78104	0.4231	M	0.82923	2.615	0.09310	N	0.999999	D	0.65815	0.995	P	0.61722	0.893	T	0.70912	-0.4743	10	0.72032	D	0.01	-1.0271	15.0224	0.71640	0.69:0.31:0.0:0.0	.	131	Q8IWU4	ZNT8_HUMAN	W	82;82;82;82;131	ENSP00000428545:R82W;ENSP00000427760:R82W;ENSP00000407505:R82W;ENSP00000431069:R82W;ENSP00000415011:R131W	ENSP00000407505:R82W	R	+	1	2	SLC30A8	118234483	0.046000	0.20272	0.094000	0.20943	0.336000	0.28762	0.600000	0.24104	0.243000	0.21327	0.655000	0.94253	CGG		TCGA-IB-7646-01A-11D-2154-08	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	1	0	1	37	141	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	37	139	0	26	2								-19.999780	1	1	121410	1	28	1	2	2	4	2.139731	1	0.320000	2.940000	0.448768	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
ARHGEF10	9639	broad.mit.edu	37	8	1882002	1882002	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	ENST00000398564.1	+	26	3191	c.3191A>G	c.(3190-3192)aAg>aGg	p.K1064R	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.K1063R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10			35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)			AAAGTGATCAAGTTAGGCGTC	0.433000																								0							SO:0001583	missense			ENST00000398564.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	5.753	0.323425	0.10900	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.11	2.74	0.32292	.	0.095581	0.64402	N	0.000001	T	0.27241	0.0668	L	0.41079	1.255	0.38419	D	0.946126	B;B	0.21520	0.057;0.004	B;B	0.25405	0.06;0.013	T	0.08371	-1.0725	10	0.23891	T	0.37	-32.4453	9.2439	0.37513	0.8544:0.0:0.1456:0.0	.	1001;1039	O15013-7;O15013-5	.;.	R	1039;1001;1063;1064;1035;683	ENSP00000340297:K1039R;ENSP00000427909:K1001R;ENSP00000431012:K1063R;ENSP00000381571:K1064R;ENSP00000262112:K1035R;ENSP00000427768:K683R	ENSP00000262112:K1035R	K	+	2	0	ARHGEF10	1869409	0.983000	0.35010	0.000000	0.03702	0.003000	0.03518	4.878000	0.63093	0.369000	0.24510	0.533000	0.62120	AAG		TCGA-IB-7646-01A-11D-2154-08	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	177	502	0	69	1	9.666073e-01	6	12	0	69	2		0	0	0	0	0	2	1	1.000000	176	498	0	69	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.097200	1	0.320000	2.940000	0.413793	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESCO2	157570	broad.mit.edu	37	8	27634027	27634027	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	ENST00000305188.8	+	3	440	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2			18		Ovarian(32;0.000953)			AATAAATAGACTGCCATCAGC	0.368000									SC Phocomelia syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	ENST00000305188.8	1	1	hg19	CCDS34872.1																																																																																				TCGA-IB-7646-01A-11D-2154-08	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	1	0	1	69	182	0	40	1	6.917410e-01	5	3	0	40	2		0	0	0	0	0	2	1	1.000000	68	179	0	40	2								-20.000000	1	1	0	0		1	2	2	4	2.180446	1	0.320000	2.940000	0.459975	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5D	137970	broad.mit.edu	37	8	35647893	35647893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	ENST00000404895.2	+	17	3002	c.2674G>A	c.(2674-2676)Gct>Act	p.A892T	UNC5D_ENST00000287272.2_Missense_Mutation_p.A823T|UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)			112					ATCTTATTTCGCTACACAAAG	0.393000																								0							SO:0001583	missense			ENST00000404895.2	1	1	hg19	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470526	0.84533	0.0	1.16E-4	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.049286	0.85682	D	0.000000	D	0.86694	0.5994	L	0.52011	1.625	0.58432	D	0.999999	P;P;P	0.52692	0.955;0.944;0.955	P;B;B	0.48598	0.583;0.177;0.271	D	0.87244	0.2268	10	0.59425	D	0.04	-14.2436	19.873	0.96856	0.0:0.0:1.0:0.0	.	468;887;892	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	892;825;823;897;887;468	ENSP00000385143:A892T;ENSP00000392739:A825T;ENSP00000287272:A823T;ENSP00000412652:A897T;ENSP00000394303:A887T;ENSP00000397211:A468T	ENSP00000287272:A823T	A	+	1	0	UNC5D	35767435	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.497000	0.81536	2.705000	0.92388	0.557000	0.71058	GCT		TCGA-IB-7646-01A-11D-2154-08	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1	114	392	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	114	390	0	47	2								-4.349722	1	1	121408	4	40	1	2	4	6	2.211130	1	0.320000	2.940000	0.466750	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRS4	8471	broad.mit.edu	37	X	107977753	107977753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	ENST00000372129.2	-	1	1898	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					TTCAGAGATTTTCCACGTTCA	0.542000																								0							SO:0001587	stop_gained			ENST00000372129.2	0	1	hg19	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	38	6.696633	0.97772	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.77	4.77	0.60923	.	0.116050	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1376	13.1593	0.59535	0.0:0.0:0.0:1.0	.	.	.	.	X	608	.	ENSP00000361202:K608X	K	-	1	0	IRS4	107864409	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.745000	0.55119	1.757000	0.51966	0.417000	0.27973	AAA		TCGA-IB-7646-01A-11D-2154-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	1	439	491	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1.000000	435	482	0	125	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	2.940000	0.320000	0.990000	0.970000	1.000000	1.000000	0.997513	0.990000	1	9.800000e-01	1
POLA1	5422	broad.mit.edu	37	X	24839663	24839663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	ENST00000379059.3	+	31	3521	c.3506T>C	c.(3505-3507)gTg>gCg	p.V1169A	POLA1_ENST00000379068.3_Missense_Mutation_p.V1175A	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit			11				Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGCAGAAAGGTGAAAGCTGGA	0.393000																								0							SO:0001583	missense			ENST00000379059.3	1	1	hg19	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184335	0.57800	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17528	2.27;2.27	4.9	4.9	0.64082	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246861	0.40302	N	0.001126	T	0.26268	0.0641	M	0.69823	2.125	0.58432	D	0.999998	P	0.37207	0.587	B	0.43754	0.43	T	0.03240	-1.1057	10	0.21540	T	0.41	-0.1434	13.7335	0.62804	0.0:0.0:0.0:1.0	.	1169	P09884	DPOLA_HUMAN	A	1175;1169	ENSP00000368358:V1175A;ENSP00000368349:V1169A	ENSP00000368349:V1169A	V	+	2	0	POLA1	24749584	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.463000	0.80869	1.816000	0.52996	0.441000	0.28932	GTG		TCGA-IB-7646-01A-11D-2154-08	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	0	0	1	81	80	0	19	1	1	24	9	0	19	2		0	0	0	0	0	2	1	1.000000	81	79	0	19	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	2.940000	0.320000	0.980000	0.920000	1.000000	0.990000	0.982590	0.980000	1	9.500000e-01	1
PAGE1	8712	broad.mit.edu	37	X	49459355	49459355	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	ENST00000376150.3	-	2	151	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)			7	Ovarian(276;0.236)				CGATAGATTAATCTTCTTAGA	0.373000																								0							SO:0001583	missense			ENST00000376150.3	0	1	hg19	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	6.763	0.509661	0.12883	.	.	ENSG00000068985	ENST00000376150	T	0.10005	2.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.11067	0.0270	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.46389	0.515	T	0.21211	-1.0252	9	0.24483	T	0.36	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	7	O75459	GAGB1_HUMAN	V	7	ENSP00000365320:L7V	ENSP00000365320:L7V	L	-	1	2	PAGE1	49346066	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.800000	0.27042	0.857000	0.35407	0.314000	0.21332	TTA		TCGA-IB-7646-01A-11D-2154-08	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1	1	0	1	45	61	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1.000000	45	60	0	13	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	2.940000	0.320000	0.960000	0.840000	1.000000	0.990000	0.956454	0.960000	1	9.100000e-01	9.900000e-01
ALAS2	212	broad.mit.edu	37	X	55047614	55047614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	ENST00000330807.5	-	5	646	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H|ALAS2_ENST00000498636.1_5'Flank	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2			17				Glycine(DB00145)	ATCAGCCCAGCGGTTCACAGT	0.483000																								0		GRCh37	CM983851|CM983852	ALAS2	M		SO:0001583	missense			ENST00000330807.5	1	1	hg19	CCDS14366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145686|5.145686	0.94603|0.94603	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000455688|ENST00000330807;ENST00000396198;ENST00000335854	.|D;D;D	.|0.95554	.|-3.74;-3.74;-3.74	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97971|0.97971	0.9332|0.9332	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99123|0.99123	1.0850|1.0850	5|10	.|0.87932	.|D	.|0	-17.4214|-17.4214	16.2829|16.2829	0.82707|0.82707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;157;170	.|A8K6C4;Q5JZF5;P22557	.|.;.;HEM0_HUMAN	T|H	122|170;157;133	.|ENSP00000332369:R170H;ENSP00000379501:R157H;ENSP00000337131:R133H	.|ENSP00000332369:R170H	A|R	-|-	1|2	0|0	ALAS2|ALAS2	55064339|55064339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.185000|2.185000	0.69588|0.69588	0.529000|0.529000	0.55759|0.55759	GCT|CGC		TCGA-IB-7646-01A-11D-2154-08	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	1	0	1	109	113	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	109	113	0	33	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	2.940000	0.320000	0.980000	0.930000	1.000000	0.990000	0.986981	0.980000	1	9.600000e-01	1
