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
PAOX	196743	broad.mit.edu	37	10	135193525	135193525	+	Silent	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:135193525G>A	ENST00000278060.5	+	2	287	c.204G>A	c.(202-204)gcG>gcA	p.A68A	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.A68A|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Silent_p.A68A	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)			23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			AGGTGGGCGCGCACTGGATCC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000278060.5	1	1	hg19	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528603	0.27299	.	.	ENSG00000148832	ENST00000539775	.	.	.	5.07	-10.1	0.00402	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59553	-0.7433	6	0.87932	D	0	-19.4616	2.3134	0.04192	0.173:0.3174:0.3293:0.1803	.	.	.	.	T	37	.	ENSP00000437742:A37T	A	+	1	0	PAOX	135043515	0.001000	0.12720	0.497000	0.27552	0.975000	0.68041	-2.122000	0.01321	-1.784000	0.01272	-0.253000	0.11424	GCA		TCGA-Z5-AAPL-01A-12D-A40W-08	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	1	0	0	10	241	0	39	0	2.687242e-02	0	6	0	39	2		0	0	0	0	0	2	1	0.996924	10	239	0	38	2								-2.810109	1	1	0	0		1	1	2	3	2.008553	0	0.100000	2	0.107586	0.860000	0.430000	1.000000	1.000000	0.829197	0.860000	1	0.610000	1.000000
DNA2	1763	broad.mit.edu	37	10	70176584	70176584	+	Missense_Mutation	SNP	C	C	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:70176584C>A	ENST00000358410.3	-	20	3046	c.2996G>T	c.(2995-2997)cGt>cTt	p.R999L	DNA2_ENST00000399180.2_Missense_Mutation_p.R1085L|DNA2_ENST00000399179.2_Missense_Mutation_p.R761L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2			20					AACATTAAGACGTCGCCAATC	0.368000																								0							SO:0001583	missense			ENST00000358410.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.101057	0.94245	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.95853	-3.83;-3.83;-3.83	5.08	5.08	0.68730	.	0.115150	0.53938	D	0.000046	D	0.98425	0.9476	H	0.94620	3.56	0.37731	D	0.92528	D;D	0.89917	1.0;0.984	D;P	0.80764	0.994;0.877	D	0.99956	1.1623	10	0.87932	D	0	.	18.4906	0.90846	0.0:1.0:0.0:0.0	.	761;999	F8VR31;P51530	.;DNA2L_HUMAN	L	761;1085;761;999	ENSP00000382133:R1085L;ENSP00000382132:R761L;ENSP00000351185:R999L	ENSP00000351185:R999L	R	-	2	0	DNA2	69846590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.356000	0.79943	0.655000	0.94253	CGT		TCGA-Z5-AAPL-01A-12D-A40W-08	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2	0	0	0	4	242	0	51	0	1.430237e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.885218	4	236	0	50	2								-5.407937	1	1	0	0		1	1	2	3	2.008553	0	0.100000	2	0.107586	0.390000	0.120000	1.000000	0.310000	0.473100	0.390000	0	0.230000	0.770000
KCNMA1	3778	broad.mit.edu	37	10	78787582	78787582	+	Splice_Site	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:78787582G>A	ENST00000286628.8	-	16	1926	c.1927C>T	c.(1927-1929)Cgt>Tgt	p.R643C	KCNMA1_ENST00000406533.3_Splice_Site_p.R643C|KCNMA1_ENST00000404771.3_Splice_Site_p.R643C|KCNMA1_ENST00000372443.1_Splice_Site_p.R643C|KCNMA1_ENST00000404857.1_Splice_Site_p.R643C|KCNMA1_ENST00000372440.1_Splice_Site_p.R643C|KCNMA1_ENST00000354353.5_Splice_Site_p.R643C|KCNMA1_ENST00000286627.5_Splice_Site_p.R643C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAAACTTACCGGCTCTCTCGG	0.483000																								0							SO:0001630	splice_region_variant			ENST00000286628.8	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.42|16.42	3.117764|3.117764	0.56505|0.56505	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.84589	.|-1.86;-1.85;-1.85;-1.86;-1.86;-1.86;-1.79;-1.87;-1.87	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.117057	.|0.64402	.|D	.|0.000016	D|D	0.82806|0.82806	0.5117|0.5117	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B;P;B;B	.|0.52463	.|0.006;0.003;0.001;0.032;0.953;0.002;0.033	.|B;B;B;B;B;B;B	.|0.43838	.|0.001;0.001;0.003;0.005;0.433;0.004;0.011	D|D	0.84716|0.84716	0.0737|0.0737	4|9	.|0.66056	.|D	.|0.02	-5.4467|-5.4467	12.2533|12.2533	0.54610|0.54610	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|643;643;643;643;643;425;643	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96	.|.;.;.;KCMA1_HUMAN;.;.;.	L|C	631;321;135|643;580;578;617;580;643;643;617;643;643;643;425	.|ENSP00000361517:R643C;ENSP00000361485:R580C;ENSP00000361514:R578C;ENSP00000396608:R617C;ENSP00000361520:R643C;ENSP00000286627:R643C;ENSP00000385552:R643C;ENSP00000346321:R643C;ENSP00000385806:R643C	.|ENSP00000286627:R643C	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78457588|78457588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.020000|6.020000	0.70826|0.70826	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	CCG|CGT		TCGA-Z5-AAPL-01A-12D-A40W-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	0	0	11	404	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	0.998146	10	395	0	87	2								-2.588164	1	1	0	0		1	1	2	3	2.008553	0	0.100000	2	0.107586	0.580000	0.290000	1.000000	0.520000	0.625223	0.580000	0	0.410000	0.900000
NAP1L4	4676	broad.mit.edu	37	11	2975837	2975837	+	Missense_Mutation	SNP	T	T	C			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr11:2975837T>C	ENST00000380542.4	-	12	1095	c.955A>G	c.(955-957)Att>Gtt	p.I319V	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4			13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)			AAGTGTCCAATTTCAAAATCA	0.448000																								0							SO:0001583	missense			ENST00000380542.4	0	1	hg19	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742296	0.49151	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.28666	1.6;1.6	4.63	4.63	0.57726	.	0.055524	0.64402	D	0.000001	T	0.34077	0.0885	M	0.64404	1.975	0.53688	D	0.999972	B;B	0.26744	0.158;0.019	B;B	0.36244	0.22;0.03	T	0.14896	-1.0456	10	0.34782	T	0.22	-17.8508	9.5911	0.39545	0.0:0.0824:0.0:0.9176	.	319;319	F5HFY4;Q99733	.;NP1L4_HUMAN	V	319	ENSP00000369915:I319V;ENSP00000436397:I319V	ENSP00000369915:I319V	I	-	1	0	NAP1L4	2932413	1.000000	0.71417	0.967000	0.41034	0.884000	0.51177	5.617000	0.67716	1.936000	0.56123	0.528000	0.53228	ATT		TCGA-Z5-AAPL-01A-12D-A40W-08	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	0	0	0	7	292	0	55	1	9.709519e-01	14	251	0	55	2		0	0	0	0	0	2	1	0.980472	7	290	0	55	2								-7.871812	1	1	0	0		1	1	2	3	2.011791	0	0.100000	2	0.108028	0.530000	0.220000	1.000000	0.460000	0.587000	0.530000	0	0.350000	0.930000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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-Z5-AAPL-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	5	213	0	60	0	3.838478e-02	1	10	0	60	2	1	9.900869e-01	6	386	0	327	2	1	0.937507	5	212	0	59	2								-3.509279	1	1	0	0		1	1	2	3	2.000035	0	0.100000	2	0.105812	0.520000	0.190000	1.000000	1.000000	0.573928	0.520000	0	0.320000	0.880000
CSRNP2	81566	broad.mit.edu	37	12	51461619	51461619	+	Missense_Mutation	SNP	C	C	T	rs148149139		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:51461619C>T	ENST00000228515.1	-	4	842	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2			14					GGCCCGTCGCCGTTTGGTGGG	0.537000																								0							SO:0001583	missense			ENST00000228515.1	1	1	hg19	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535451	0.64972	0.0	1.16E-4	ENSG00000110925	ENST00000228515	T	0.10860	2.83	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.05608	-0.01	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	T	0.38520	-0.9657	10	0.23302	T	0.38	-18.6725	17.4885	0.87696	0.0:1.0:0.0:0.0	.	182	Q9H175	CSRN2_HUMAN	Q	182	ENSP00000228515:R182Q	ENSP00000228515:R182Q	R	-	2	0	CSRNP2	49747886	0.171000	0.23029	1.000000	0.80357	0.995000	0.86356	0.943000	0.29030	2.758000	0.94735	0.561000	0.74099	CGG		TCGA-Z5-AAPL-01A-12D-A40W-08	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1	0	0	0	11	435	0	60	0	8.576470e-02	1	17	0	60	2		0	0	0	0	0	2	1	0.998248	11	429	0	60	2								-2.978236	1	1	121412	2	37	1	1	2	3	2.000035	0	0.100000	2	0.105812	0.530000	0.270000	1.000000	0.480000	0.577806	0.530000	0	0.380000	0.780000
PTPRB	5787	broad.mit.edu	37	12	70964902	70964902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:70964902G>A	ENST00000261266.5	-	11	2649	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	PTPRB_ENST00000334414.6_Nonsense_Mutation_p.R1092*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		GAAGTAAATCGATACTCGGTT	0.453000																								0							SO:0001587	stop_gained			ENST00000261266.5	0	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958065	0.97145	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.9	3.02	0.34903	.	1.012530	0.07887	N	0.970442	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.9582	0.35832	0.0691:0.0:0.4405:0.4904	.	.	.	.	X	1092;784;1004;874;784;874;1091;971	.	ENSP00000261266:R874X	R	-	1	2	PTPRB	69251169	0.008000	0.16893	0.049000	0.19019	0.466000	0.32739	0.162000	0.16501	0.358000	0.24211	-0.188000	0.12872	CGA		TCGA-Z5-AAPL-01A-12D-A40W-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	0	0	0	5	185	0	51	0	1.239321e-01	0	19	0	51	2		0	0	0	0	0	2	1	0.934835	5	181	0	51	2								-6.841176	1	1	0	0		1	1	2	3	2.000035	0	0.100000	2	0.105812	0.600000	0.220000	1.000000	1.000000	0.634053	0.600000	0	0.370000	1.000000
FNDC3A	22862	broad.mit.edu	37	13	49781232	49781232	+	Missense_Mutation	SNP	G	G	A	rs142361918	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr13:49781232G>A	ENST00000492622.2	+	26	3603	c.3298G>A	c.(3298-3300)Gac>Aac	p.D1100N	FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A			41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		CAAGGGTCCCGACTCTTCCTT	0.438000																								0							SO:0001583	missense			ENST00000492622.2	0	1	hg19	CCDS41886.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.261	-0.615789	0.03663	0.00227	0.0	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.35605	1.31;1.31;1.3	5.23	3.51	0.40186	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.380675	0.24422	N	0.038661	T	0.23886	0.0578	L	0.35487	1.065	0.09310	N	0.999999	B;B	0.16166	0.016;0.009	B;B	0.15870	0.014;0.002	T	0.20538	-1.0272	10	0.18276	T	0.48	-4.6725	8.3463	0.32275	0.2376:0.0:0.7624:0.0	.	1044;1100	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	N	1100;1036;1100;1044	ENSP00000417257:D1100N;ENSP00000441831:D1100N;ENSP00000381362:D1044N	ENSP00000338579:D1036N	D	+	1	0	FNDC3A	48679233	1.000000	0.71417	0.066000	0.19879	0.010000	0.07245	4.351000	0.59398	0.596000	0.29794	-0.781000	0.03364	GAC		TCGA-Z5-AAPL-01A-12D-A40W-08	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	0	0	0	7	366	0	95	1	2.929347e-01	9	42	0	95	2		0	0	0	0	0	2	1	0.980089	7	362	0	94	2								-6.767522	1	1	121412	20	44	1	1	2	3	2.008041	0	0.100000	2	0.107586	0.420000	0.180000	1.000000	0.380000	0.497430	0.420000	0	0.280000	0.730000
ACSBG1	23205	broad.mit.edu	37	15	78474328	78474328	+	Missense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr15:78474328C>T	ENST00000258873.4	-	8	1259	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1			37					GCGTCGGGTTCGGCAAAGCAA	0.617000																								0							SO:0001583	missense			ENST00000258873.4	0	1	hg19	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263568	0.59431	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.11712	2.75;2.75	5.14	4.21	0.49690	AMP-dependent synthetase/ligase (1);	0.343803	0.30338	N	0.009850	T	0.12305	0.0299	L	0.54863	1.705	0.31434	N	0.672767	P;B	0.35192	0.489;0.076	B;B	0.32624	0.149;0.045	T	0.04053	-1.0981	10	0.30854	T	0.27	-20.9457	15.0902	0.72188	0.0:0.8577:0.1423:0.0	.	348;352	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	K	352;110	ENSP00000258873:E352K;ENSP00000439955:E110K	ENSP00000258873:E352K	E	-	1	0	ACSBG1	76261383	0.780000	0.28664	0.125000	0.21846	0.935000	0.57460	1.253000	0.32886	1.283000	0.44513	0.650000	0.86243	GAA		TCGA-Z5-AAPL-01A-12D-A40W-08	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	0	0	0	8	265	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	0.989342	8	263	0	42	2								-3.393421	1	1	121412	1	32	1	1	2	3	2.009458	0	0.100000	2	0.107586	0.650000	0.290000	1.000000	1.000000	0.681715	0.650000	0	0.440000	1.000000
DNAH9	1770	broad.mit.edu	37	17	11687719	11687719	+	Missense_Mutation	SNP	G	G	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:11687719G>T	ENST00000262442.4	+	41	7992	c.7924G>T	c.(7924-7926)Gcg>Tcg	p.A2642S	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			AAACTTCCCGGCGTCCCTGCA	0.542000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707583	0.03230	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.36699	1.24;1.24	5.56	0.768	0.18487	.	0.509864	0.20467	N	0.091774	T	0.12817	0.0311	N	0.04820	-0.15	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.25467	-1.0131	10	0.10902	T	0.67	.	4.329	0.11053	0.1421:0.1233:0.6074:0.1272	.	2642	Q9NYC9	DYH9_HUMAN	S	2642;2642;1224	ENSP00000262442:A2642S;ENSP00000414874:A2642S	ENSP00000262442:A2642S	A	+	1	0	DNAH9	11628444	0.149000	0.22717	0.002000	0.10522	0.000000	0.00434	2.179000	0.42528	0.694000	0.31654	-0.152000	0.13540	GCG		TCGA-Z5-AAPL-01A-12D-A40W-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	0	0	0	18	754	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.999979	17	742	0	139	2								-3.042933	1	1	0	0		1	0	1	1	1.993482	0	0.100000	2	0.092742	0.460000	0.280000	0.700000	0.460000	0.480862	0.460000	0	0.360000	0.580000
KRT26	353288	broad.mit.edu	37	17	38926606	38926606	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:38926606G>A	ENST00000335552.4	-	3	628	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C		NM_181539.4	NP_853517.2			keratin 26			16		Breast(137;0.00526)			AACACTCTGCGAAGACCACTG	0.488000																								0							SO:0001583	missense			ENST00000335552.4	1	1	hg19	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664425	0.47572	.	.	ENSG00000186393	ENST00000335552	D	0.92545	-3.06	5.42	5.42	0.78866	Filament (1);	0.193938	0.37136	N	0.002236	D	0.96078	0.8722	M	0.82193	2.58	0.35379	D	0.789788	D	0.89917	1.0	D	0.85130	0.997	D	0.99215	1.0877	10	0.87932	D	0	.	15.037	0.71754	0.0:0.0:0.8576:0.1424	.	194	Q7Z3Y9	K1C26_HUMAN	C	194	ENSP00000334798:R194C	ENSP00000334798:R194C	R	-	1	0	KRT26	36180132	0.004000	0.15560	0.133000	0.22050	0.393000	0.30537	1.481000	0.35476	2.705000	0.92388	0.655000	0.94253	CGC		TCGA-Z5-AAPL-01A-12D-A40W-08	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	0	0	0	13	431	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.999474	12	422	0	89	2								-2.951480	1	1	121412	1	35	1	0	1	1	1.993482	0	0.100000	2	0.092742	0.580000	0.330000	0.930000	0.570000	0.607845	0.580000	0	0.440000	0.760000
PTRF	284119	broad.mit.edu	37	17	40557306	40557306	+	Missense_Mutation	SNP	C	C	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:40557306C>G	ENST00000357037.5	-	2	991	c.572G>C	c.(571-573)cGg>cCg	p.R191P		NM_012232.5	NP_036364.2			polymerase I and transcript release factor			17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)			CTCCTCGGGCCGCTCGCCCTC	0.642000																								0							SO:0001583	missense			ENST00000357037.5	0	1	hg19	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309923	0.23821	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.59083	0.29	5.35	3.16	0.36331	.	0.763946	0.12471	N	0.465970	T	0.37376	0.1001	N	0.14661	0.345	0.29558	N	0.850856	P;P	0.46952	0.887;0.755	B;B	0.43360	0.417;0.417	T	0.17992	-1.0351	10	0.32370	T	0.25	-26.2144	4.1299	0.10144	0.0:0.5917:0.0:0.4083	.	173;191	B4DNU9;Q6NZI2	.;PTRF_HUMAN	P	191;146	ENSP00000349541:R191P	ENSP00000349541:R191P	R	-	2	0	PTRF	37810832	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.269000	0.43346	1.260000	0.44134	0.446000	0.29264	CGG		TCGA-Z5-AAPL-01A-12D-A40W-08	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	0	0	0	12	776	0	146	0	3.523221e-01	1	75	0	146	2		0	0	0	0	0	2	1	0.998943	12	753	0	143	2								-2.543191	1	1	0	0		1	0	1	1	1.993482	0	0.100000	2	0.092742	0.300000	0.160000	0.500000	0.300000	0.322435	0.300000	0	0.220000	0.410000
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D	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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572000		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	95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(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	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		TCGA-Z5-AAPL-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	1	12	267	0	62	1	9.052728e-01	11	83	0	62	2	1	9.999997e-01	15	762	0	936	2	1	0.999075	11	263	0	60	2								-4.308988	1	1	0	0		1	0	1	1	1.993482	0	0.100000	2	0.092742	0.850000	0.470000	1.000000	1.000000	0.834432	0.850000	1	0.640000	1.000000
DTNA	1837	broad.mit.edu	37	18	32374135	32374135	+	Missense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:32374135C>T	ENST00000399113.3	+	3	283	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000283365.9_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha			29					GCTCAACAAACGGATGCCAAC	0.498000																								0							SO:0001583	missense			ENST00000399113.3	1	1	hg19	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247247	0.80024	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.43	2.35	0.29111	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.933;0.965;0.998;0.999;0.953;0.999;0.999;0.998;0.999;0.988;0.998	D	0.85817	0.1383	10	0.87932	D	0	-20.1745	13.365	0.60678	0.4429:0.5571:0.0:0.0	.	95;95;95;95;95;95;95;106;95;95;95;95	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	W	95	ENSP00000283365:R95W;ENSP00000322519:R95W;ENSP00000269190:R95W;ENSP00000336682:R95W;ENSP00000382072:R95W;ENSP00000405819:R95W;ENSP00000269191:R95W;ENSP00000382064:R95W	ENSP00000269190:R95W	R	+	1	2	DTNA	30628133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.601000	0.46249	0.699000	0.31761	0.563000	0.77884	CGG		TCGA-Z5-AAPL-01A-12D-A40W-08	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	0	0	0	12	367	0	71	0	1.155573e-02	0	5	0	71	2		0	0	0	0	0	2	1	0.999047	12	360	0	71	2								-3.194878	1	1	0	0		1	0	0	0	1.962870	0	0.100000	2	0.076923	0.620000	0.340000	0.990000	1.000000	0.641320	0.620000	0	0.460000	0.810000
LRRC30	339291	broad.mit.edu	37	18	7231720	7231720	+	Missense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:7231720C>T	ENST00000383467.2	+	1	598	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30			31					CACGTGGGCTCGAATCGCCTG	0.537000																								0							SO:0001583	missense			ENST00000383467.2	0	1	hg19	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809700	0.50421	.	.	ENSG00000206422	ENST00000383467	T	0.25912	1.77	5.65	5.65	0.86999	.	0.097810	0.64402	D	0.000001	T	0.31702	0.0805	M	0.86740	2.835	0.40424	D	0.979872	D	0.59357	0.985	B	0.38106	0.265	T	0.43877	-0.9364	10	0.10902	T	0.67	.	16.3636	0.83296	0.0:0.8683:0.1317:0.0	.	195	A6NM36	LRC30_HUMAN	L	195	ENSP00000372959:S195L	ENSP00000372959:S195L	S	+	2	0	LRRC30	7221720	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.118000	0.50414	2.827000	0.97445	0.650000	0.86243	TCG		TCGA-Z5-AAPL-01A-12D-A40W-08	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	0	0	0	8	320	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	0.989055	8	316	0	70	2								-3.077805	1	1	0	0		1	0	0	0	1.962870	0	0.100000	2	0.076923	0.480000	0.230000	0.850000	0.460000	0.511772	0.480000	0	0.340000	0.670000
EMR1	2015	broad.mit.edu	37	19	6896543	6896543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:6896543C>T	ENST00000312053.4	+	3	266	c.229C>T	c.(229-231)Cga>Tga	p.R77*	AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1			62	all_hematologic(4;0.166)				TCCAGGAGTGCGATGCAAAGG	0.488000																								0							SO:0001587	stop_gained			ENST00000312053.4	0	1	hg19	CCDS12175.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.99	2.401597	0.42613	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	3.91	-4.95	0.03048	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.419	0.16390	0.5275:0.1535:0.319:0.0	.	.	.	.	X	77	.	ENSP00000250572:R77X	R	+	1	2	EMR1	6847543	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.033000	0.03571	-1.227000	0.02571	-1.146000	0.01853	CGA		TCGA-Z5-AAPL-01A-12D-A40W-08	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0	0	0	5	185	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	0.936632	4	184	0	46	2								-6.731108	1	0	121410	3	35	1	1	2	3	2.018897	0	0.100000	2	0.109792	0.620000	0.230000	1.000000	1.000000	0.660959	0.620000	0	0.380000	1.000000
MCOLN1	57192	broad.mit.edu	37	19	7594053	7594053	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:7594053G>A	ENST00000264079.6	+	10	1326	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1			18					GTGGGTGGGCGTGATCCGCTA	0.572000																								0							SO:0001583	missense			ENST00000264079.6	0	1	hg19	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668544	0.88348	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.71934	-0.61	5.27	5.27	0.74061	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.69248	2.105	0.80722	D	1	D;D	0.69078	0.969;0.997	P;D	0.64237	0.713;0.923	T	0.82374	-0.0489	10	0.52906	T	0.07	.	16.364	0.83307	0.0:0.0:1.0:0.0	.	366;401	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	401;366	ENSP00000264079:V401M	ENSP00000264079:V401M	V	+	1	0	MCOLN1	7500053	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.473000	0.97714	2.459000	0.83118	0.561000	0.74099	GTG		TCGA-Z5-AAPL-01A-12D-A40W-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	1	6	268	0	64	1	1.982095e-01	9	23	0	64	2		0	0	0	0	0	2	1	0.963408	6	263	0	63	2								-3.021927	1	1	0	0		1	1	2	3	2.018897	0	0.100000	2	0.109792	0.510000	0.200000	1.000000	0.430000	0.578691	0.510000	0	0.320000	1.000000
FAM20B	9917	broad.mit.edu	37	1	179033482	179033482	+	Silent	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:179033482G>A	ENST00000263733.4	+	6	1125	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B			14					TGAAGAAAACGTCCCCTTATG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000263733.4	0	1	hg19	CCDS1328.1																																																																																				TCGA-Z5-AAPL-01A-12D-A40W-08	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	0	0	0	11	481	0	99	0	7.977548e-02	0	19	0	99	2		0	0	0	0	0	2	1	0.998252	11	475	0	99	2								-3.111983	1	1	121412	1	33	1	1	2	3	2.005483	0	0.100000	2	0.106700	0.480000	0.240000	1.000000	0.440000	0.542722	0.480000	0	0.350000	0.730000
C1orf173	0	broad.mit.edu	37	1	75065538	75065538	+	Missense_Mutation	SNP	T	T	C			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:75065538T>C	ENST00000326665.5	-	11	1785	c.1567A>G	c.(1567-1569)Atg>Gtg	p.M523V	C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN				184					ATTCCATTCATTTGAACATCA	0.388000																								0							SO:0001583	missense			ENST00000326665.5	1	1	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	0.834	-0.744144	0.03088	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16897	2.71;2.31	6.05	2.54	0.30619	.	.	.	.	.	T	0.04634	0.0126	L	0.43152	1.355	0.25581	N	0.986794	B;B	0.28350	0.018;0.208	B;B	0.22152	0.011;0.038	T	0.37407	-0.9707	9	0.27082	T	0.32	-8.5564	8.5652	0.33536	0.0:0.2774:0.0:0.7226	.	326;523	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	V	523;326	ENSP00000322609:M523V;ENSP00000398581:M326V	ENSP00000322609:M523V	M	-	1	0	C1orf173	74838126	1.000000	0.71417	0.973000	0.42090	0.002000	0.02628	1.395000	0.34520	0.531000	0.28639	-0.924000	0.02725	ATG		TCGA-Z5-AAPL-01A-12D-A40W-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0	0	0	18	593	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	0.999981	18	589	0	118	2								-15.734380	1	1	0	0		1	1	2	3	2.010900	0	0.100000	2	0.108028	0.630000	0.370000	1.000000	0.590000	0.669864	0.630000	0	0.480000	0.920000
DIDO1	11083	broad.mit.edu	37	20	61513415	61513415	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr20:61513415G>A	ENST00000266070.4	-	16	4218	c.3893C>T	c.(3892-3894)aCg>aTg	p.T1298M	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				GGAAGCTGCCGTGGAGGCTGC	0.587000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816445	0.50527	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.1	-5.01	0.02991	.	1.157060	0.06652	N	0.762887	T	0.05547	0.0146	L	0.44542	1.39	0.09310	N	1	D	0.55385	0.971	B	0.32805	0.153	T	0.39623	-0.9605	10	0.48119	T	0.1	-4.5123	8.9622	0.35854	0.3154:0.4322:0.2523:0.0	.	1298	Q9BTC0	DIDO1_HUMAN	M	1298	ENSP00000266070:T1298M;ENSP00000378752:T1298M	ENSP00000266070:T1298M	T	-	2	0	DIDO1	60983860	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.961000	0.03845	-0.878000	0.04007	-0.253000	0.11424	ACG		TCGA-Z5-AAPL-01A-12D-A40W-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0	35	571	0	127	0	1.983426e-02	0	4	0	127	2		0	0	0	0	0	2	1	1.000000	31	497	0	115	2								-3.017764	1	1	121390	8	42	1	1	2	3	2.029556	0	0.100000	2	0.111988	0.990000	0.840000	1.000000	1.000000	0.988215	0.990000	1	0.990000	1.000000
KRTAP11-1	337880	broad.mit.edu	37	21	32253584	32253584	+	Missense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr21:32253584C>T	ENST00000332378.4	-	1	290	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	p.R87P(3)		18					GGTAGTTTGTCGAGAGCAAGT	0.562000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000332378.4	0	1	hg19	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220423	0.58560	0.0	1.16E-4	ENSG00000182591	ENST00000332378	T	0.03272	3.99	5.4	3.44	0.39384	.	0.155844	0.40222	N	0.001147	T	0.12561	0.0305	M	0.83118	2.625	0.09310	N	1	D	0.63880	0.993	P	0.55260	0.772	T	0.21280	-1.0250	10	0.15952	T	0.53	-4.064	14.4357	0.67279	0.0:0.7222:0.2778:0.0	.	87	Q8IUC1	KR111_HUMAN	Q	87	ENSP00000330720:R87Q	ENSP00000330720:R87Q	R	-	2	0	KRTAP11-1	31175455	0.328000	0.24687	0.105000	0.21289	0.909000	0.53808	1.165000	0.31822	1.398000	0.46701	0.650000	0.86243	CGA		TCGA-Z5-AAPL-01A-12D-A40W-08	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1	0	0	0	5	228	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.938210	6	227	0	35	2								-2.905518	1	1	121412	14	42	1	1	2	3	2.013952	0	0.100000	2	0.108470	0.500000	0.180000	1.000000	0.410000	0.568734	0.500000	0	0.310000	1.000000
TTLL4	9654	broad.mit.edu	37	2	219614735	219614735	+	Silent	SNP	C	C	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:219614735C>A	ENST00000392102.1	+	15	3079	c.2739C>A	c.(2737-2739)ctC>ctA	p.L913L	TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000442769.1_Silent_p.L849L|TTLL4_ENST00000258398.4_Silent_p.L913L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4			39		Renal(207;0.0915)			TCTGAAGCCTCCACTCCAGCT	0.468000													GBM(172;1818 2053 15407 20943 49753)											0							SO:0001819	synonymous_variant			ENST00000392102.1	1	1	hg19	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	7.239	0.600803	0.13939	.	.	ENSG00000135912	ENST00000436668	.	.	.	4.87	1.8	0.24995	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46359	-0.9197	4	.	.	.	.	6.8562	0.24042	0.0:0.6245:0.1469:0.2285	.	.	.	.	T	58	.	.	P	+	1	0	TTLL4	219322979	0.989000	0.36119	0.998000	0.56505	0.827000	0.46813	0.307000	0.19296	0.624000	0.30286	0.650000	0.86243	CCA		TCGA-Z5-AAPL-01A-12D-A40W-08	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	0	0	0	24	972	0	270	1	2.559310e-01	5	34	0	270	2		0	0	0	0	0	2	1	1.000000	24	958	0	268	2								-2.296168	0	1	0	0		1	0	1	1	1.999628	0	0.100000	2	0.094112	0.480000	0.310000	0.680000	0.480000	0.492939	0.480000	0	0.390000	0.590000
VWA3B	200403	broad.mit.edu	37	2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					GATTTTGGCGGCATTCTGGAG	0.522000																								0							SO:0001583	missense			ENST00000477737.1	0	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC		TCGA-Z5-AAPL-01A-12D-A40W-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	0	0	0	7	873	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	0.979139	7	855	0	157	2								-1.904572	0	1	0	0		1	0	1	1	1.999628	0	0.100000	2	0.094112	0.160000	0.070000	0.310000	0.150000	0.178256	0.160000	0	0.110000	0.240000
PBRM1	55193	broad.mit.edu	37	3	52637535	52637535	+	Splice_Site	SNP	A	A	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:52637535A>G	ENST00000296302.7	-	17	2781		c.e17+1		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1			335					AAAGAAACCAACCTCTTTTTT	0.318000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast										Rec	yes		3	3p21	55193	polybromo 1		E	0							SO:0001630	splice_region_variant			ENST00000296302.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.5	4.302447	0.81136	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3425	0.66636	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52612575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.877000	0.92386	2.174000	0.68829	0.445000	0.29226	.		TCGA-Z5-AAPL-01A-12D-A40W-08	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	0	0	5	93	0	25		0	0	0	0	25	2	1	9.985971e-01	7	280	0	262	2	1	0.935809	5	91	0	25	2								-8.962530	1	1	0	0		1	0	0	0	1.979503	0	0.100000	2	0.085366	0.960000	0.390000	1.000000	1.000000	0.859649	0.960000	1	0.630000	1.000000
RAPGEF2	9693	broad.mit.edu	37	4	160266337	160266337	+	Missense_Mutation	SNP	A	A	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:160266337A>T	ENST00000264431.4	+	18	3294	c.2875A>T	c.(2875-2877)Agt>Tgt	p.S959C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				GGTACGTCGTAGTTCCTTTCT	0.448000																								0							SO:0001583	missense			ENST00000264431.4	1	1	hg19	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.747227|4.747227	0.89663|0.89663	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.43688|.	0.94|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77896|.	0.4199|.	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|.	0.78640|.	-0.2125|.	10|.	0.87932|.	D|.	0|.	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	959|.	Q9Y4G8|.	RPGF2_HUMAN|.	C|L	959|64	ENSP00000264431:S959C|.	ENSP00000264431:S959C|.	S|X	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160485787|160485787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.339000|9.339000	0.96797|0.96797	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AGT|TAG		TCGA-Z5-AAPL-01A-12D-A40W-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	0	25	528	0	119	1	1.724307e-01	2	14	0	119	2		0	0	0	0	0	2	1	1.000000	25	522	0	117	2								-5.056357	1	1	0	0		1	1	2	3	2.003601	0	0.100000	2	0.106256	0.940000	0.610000	1.000000	1.000000	0.899503	0.940000	1	0.760000	1.000000
FAT1	2195	broad.mit.edu	37	4	187521297	187521297	+	Missense_Mutation	SNP	C	C	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:187521297C>A	ENST00000441802.2	-	22	12067	c.11858G>T	c.(11857-11859)gGt>gTt	p.G3953V	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					GATGTGGCCACCAAAAAACAC	0.488000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043601	0.93685	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.96716	-4.1	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.52906	T	0.07	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	3953	Q14517	FAT1_HUMAN	V	3953;3955	ENSP00000406229:G3953V	ENSP00000260147:G3955V	G	-	2	0	FAT1	187758291	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.490000	0.81461	2.726000	0.93360	0.655000	0.94253	GGT		TCGA-Z5-AAPL-01A-12D-A40W-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	0	1	14	362	0	66	1	4.899405e-01	8	34	0	66	2		0	0	0	0	0	2	1	0.999753	14	359	0	66	2								-3.745974	1	1	0	0		1	0	1	1	1.982565	0	0.100000	2	0.087684	0.730000	0.420000	1.000000	1.000000	0.748371	0.730000	0	0.560000	0.940000
C4orf50	389197	broad.mit.edu	37	4	5969140	5969140	+	Splice_Site	SNP	C	C	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:5969140C>A	ENST00000324058.5	-	5	547		c.e5+1		C4orf50_ENST00000531445.1_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50			15					ATCACACTGACCTCTTAAAGC	0.537000																								0							SO:0001630	splice_region_variant			ENST00000324058.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.01	1.514360	0.27123	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	.	.	.	2.99	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7214	0.40306	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf50	6020041	0.997000	0.39634	1.000000	0.80357	0.411000	0.31082	1.288000	0.33296	1.992000	0.58205	0.655000	0.94253	.		TCGA-Z5-AAPL-01A-12D-A40W-08	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	6	381	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	0.963835	6	376	0	73	2								-6.003041	1	1	121412	9	40	1	1	2	3	2.003601	0	0.100000	2	0.106256	0.350000	0.140000	1.000000	0.300000	0.426579	0.350000	0	0.220000	0.590000
MEGF10	84466	broad.mit.edu	37	5	126732303	126732303	+	Silent	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:126732303C>T	ENST00000274473.6	+	7	759	c.492C>T	c.(490-492)acC>acT	p.T164T	MEGF10_ENST00000418761.2_Silent_p.T164T|MEGF10_ENST00000503335.2_Silent_p.T164T|MEGF10_ENST00000508365.1_Silent_p.T164T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10			68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		ACCCCATCACCGGGGCTTGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000274473.6	0	1	hg19	CCDS4142.1																																																																																				TCGA-Z5-AAPL-01A-12D-A40W-08	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	0	0	0	5	406	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.932924	5	395	0	85	2								-2.953216	1	1	0	0		1	1	2	3	2.003182	0	0.100000	2	0.106256	0.280000	0.100000	1.000000	0.240000	0.366232	0.280000	0	0.170000	0.490000
PCDHGB6	56100	broad.mit.edu	37	5	140788191	140788191	+	Missense_Mutation	SNP	A	A	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:140788191A>G	ENST00000520790.1	+	1	422	c.422A>G	c.(421-423)gAa>gGa	p.E141G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6			48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATACATTTAGAAATTTTCGAA	0.363000																								0							SO:0001583	missense			ENST00000520790.1	0	1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	17.47	3.397159	0.62177	.	.	ENSG00000253305	ENST00000520790	T	0.54866	0.55	5.16	5.16	0.70880	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70544	0.3236	M	0.91406	3.205	0.23773	N	0.996885	P;P	0.45768	0.866;0.837	P;P	0.48770	0.589;0.559	T	0.69105	-0.5233	9	0.87932	D	0	.	14.9944	0.71418	1.0:0.0:0.0:0.0	.	141;141	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	G	141	ENSP00000428603:E141G	ENSP00000428603:E141G	E	+	2	0	PCDHGB6	140768375	0.990000	0.36364	0.666000	0.29783	0.959000	0.62525	3.486000	0.53215	1.943000	0.56356	0.383000	0.25322	GAA		TCGA-Z5-AAPL-01A-12D-A40W-08	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	0	0	0	8	320	0	69	0	8.239495e-04	0	2	0	69	2		0	0	0	0	0	2	1	0.989192	8	317	0	69	2								-9.175200	1	1	0	0		1	1	2	3	2.003182	0	0.100000	2	0.106256	0.530000	0.240000	1.000000	0.480000	0.586072	0.530000	0	0.360000	0.840000
SH3TC2	79628	broad.mit.edu	37	5	148407193	148407193	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:148407193G>A	ENST00000515425.1	-	11	2203	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A248V|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2			39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CATCCCTTGGGCACTCTGGAT	0.522000																								0							SO:0001583	missense			ENST00000515425.1	0	1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.400817	0.01165	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.80738	-1.41;-0.99;-0.99;-0.62	6.16	0.91	0.19337	.	0.676499	0.15440	N	0.262254	T	0.60907	0.2305	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.001	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.43988	-0.9357	10	0.33141	T	0.24	0.0658	2.7471	0.05270	0.3708:0.1077:0.4114:0.1101	.	586;694;701;701	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	248;701;694;586	ENSP00000441427:A248V;ENSP00000423660:A701V;ENSP00000421860:A694V;ENSP00000377886:A586V	ENSP00000377886:A586V	A	-	2	0	SH3TC2	148387386	0.000000	0.05858	0.018000	0.16275	0.056000	0.15407	-0.600000	0.05693	-0.109000	0.12044	0.650000	0.86243	GCC		TCGA-Z5-AAPL-01A-12D-A40W-08	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	0	0	0	9	466	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	0.993669	9	456	0	81	2								-3.118319	1	1	0	0		1	1	2	3	2.003182	0	0.100000	2	0.106256	0.410000	0.190000	1.000000	0.380000	0.480060	0.410000	0	0.290000	0.640000
IYD	389434	broad.mit.edu	37	6	150719206	150719206	+	Missense_Mutation	SNP	A	A	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:150719206A>G	ENST00000344419.3	+	5	843	c.703A>G	c.(703-705)Act>Gct	p.T235A	IYD_ENST00000392256.2_3'UTR|IYD_ENST00000229447.5_Missense_Mutation_p.D272G	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		AGGTCTGGTGACTGTCACTAC	0.547000																								0							SO:0001583	missense			ENST00000344419.3	1	1	hg19	CCDS5227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.13|19.13	3.767314|3.767314	0.69878|0.69878	.|.	.|.	ENSG00000009765|ENSG00000009765	ENST00000229447|ENST00000344419	D|T	0.89270|0.76578	-2.49|-1.03	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nitroreductase-like (3);	1.386530|.	0.04568|.	N|.	0.392699|.	T|T	0.74199|0.74199	0.3685|0.3685	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P|B;B	0.39282|0.32543	0.666|0.375;0.105	B|B;B	0.33339|0.40329	0.162|0.28;0.326	T|T	0.75539|0.75539	-0.3282|-0.3282	10|9	0.12430|0.45353	T|T	0.62|0.12	-7.4588|-7.4588	16.6127|16.6127	0.84892|0.84892	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	272|153;235	C9JFW2|Q2VPV9;Q6PHW0	.|.;IYD1_HUMAN	G|A	272|235	ENSP00000229447:D272G|ENSP00000343763:T235A	ENSP00000229447:D272G|ENSP00000343763:T235A	D|T	+|+	2|1	0|0	IYD|IYD	150760899|150760899	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.980000|0.980000	0.70556|0.70556	9.158000|9.158000	0.94723|0.94723	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	GAC|ACT		TCGA-Z5-AAPL-01A-12D-A40W-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	0	9	431	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	0.993890	9	424	0	107	2								-8.238377	1	1	0	0		1	1	2	3	2.000725	0	0.100000	2	0.105812	0.440000	0.210000	1.000000	0.400000	0.504319	0.440000	0	0.310000	0.680000
MAP3K7	6885	broad.mit.edu	37	6	91281458	91281458	+	Missense_Mutation	SNP	T	T	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:91281458T>A	ENST00000369329.3	-	2	350	c.189A>T	c.(187-189)aaA>aaT	p.K63N	MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7			28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)			TTTCTATTTGTTTAATAGCAA	0.343000																								0							SO:0001583	missense			ENST00000369329.3	0	1	hg19	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049793	0.75846	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.57	0.54	0.17163	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083754	0.85682	D	0.000000	D	0.83718	0.5315	H	0.96833	3.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84563	0.0651	10	0.87932	D	0	.	9.6418	0.39844	0.0:0.3498:0.0:0.6502	.	63;63;63;63	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	N	63	ENSP00000358338:K63N;ENSP00000358335:K63N;ENSP00000358331:K63N;ENSP00000358333:K63N	ENSP00000358331:K63N	K	-	3	2	MAP3K7	91338179	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.788000	0.26872	-0.119000	0.11830	0.455000	0.32223	AAA		TCGA-Z5-AAPL-01A-12D-A40W-08	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	0	0	0	5	260	0	42	1	1.822282e-01	2	32	0	42	2		0	0	0	0	0	2	1	0.934301	5	254	0	42	2								-6.396762	1	1	0	0		1	1	2	3	2.000725	0	0.100000	2	0.105812	0.430000	0.160000	1.000000	0.360000	0.496058	0.430000	0	0.270000	0.730000
HBP1	26959	broad.mit.edu	37	7	106826825	106826825	+	Missense_Mutation	SNP	C	C	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826825C>G	ENST00000222574.4	+	5	746	c.560C>G	c.(559-561)tCt>tGt	p.S187C	HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1			10					GAGTCAGAATCTGGCATTTTC	0.353000																								0							SO:0001583	missense			ENST00000222574.4	0	1	hg19	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552901	0.86127	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99292	-5.7;-5.7;-5.7	5.87	5.87	0.94306	.	0.045544	0.85682	D	0.000000	D	0.99020	0.9665	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.97;0.996;0.991	D	0.99933	1.1335	10	0.87932	D	0	-17.6824	20.206	0.98277	0.0:1.0:0.0:0.0	.	197;187;187	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	C	187;187;187;179	ENSP00000420500:S187C;ENSP00000222574:S187C;ENSP00000418738:S187C	ENSP00000222574:S187C	S	+	2	0	HBP1	106614061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	TCT		TCGA-Z5-AAPL-01A-12D-A40W-08	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	0	0	0	10	585	0	91	1	3.265751e-01	2	62	0	91	2		0	0	0	0	0	2	1	0.996644	10	575	0	91	2								-2.934237	1	1	0	0		1	1	2	3	2.006178	0	0.100000	2	0.107143	0.370000	0.180000	1.000000	0.340000	0.445952	0.370000	0	0.260000	0.580000
PRSS55	203074	broad.mit.edu	37	8	10389055	10389055	+	Splice_Site	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:10389055G>A	ENST00000328655.3	+	3	638	c.598G>A	c.(598-600)Gct>Act	p.A200T	PRSS55_ENST00000522210.1_Splice_Site_p.A200T|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55			31					GACCAATGCTGGTATGTGACT	0.597000																								0							SO:0001630	splice_region_variant			ENST00000328655.3	0	1	hg19	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067468	0.20067	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.92752	-3.1;-3.1	4.98	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.277430	0.02191	N	0.061344	D	0.84088	0.5395	N	0.11789	0.175	0.30422	N	0.77797	B	0.20671	0.047	B	0.19148	0.024	T	0.74070	-0.3783	10	0.19590	T	0.45	.	5.7986	0.18401	0.2921:0.0:0.7079:0.0	.	200	Q6UWB4	PRS55_HUMAN	T	200	ENSP00000333003:A200T;ENSP00000430459:A200T	ENSP00000333003:A200T	A	+	1	0	PRSS55	10426465	0.954000	0.32549	0.319000	0.25293	0.107000	0.19398	1.531000	0.36018	0.657000	0.30906	0.655000	0.94253	GCT		TCGA-Z5-AAPL-01A-12D-A40W-08	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	0	0	0	4	240	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	0.888188	4	237	0	48	2								-3.968658	1	1	0	0		1	1	2	3	2.012571	0	0.100000	2	0.108470	0.400000	0.130000	1.000000	0.320000	0.483996	0.400000	0	0.230000	0.850000
RIMS2	9699	broad.mit.edu	37	8	104898176	104898176	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:104898176G>A	ENST00000436393.2	+	2	924	c.683G>A	c.(682-684)cGt>cAt	p.R228H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R258H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		GACTTGAGGCGTACTGACTCA	0.463000										HNSCC(12;0.0054)														0							SO:0001583	missense			ENST00000436393.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.4	3.986352	0.74589	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.19250	2.16;2.65;2.22;2.27;2.3;2.23;2.62	5.65	5.65	0.86999	.	.	.	.	.	T	0.42154	0.1190	L	0.43152	1.355	0.80722	D	1	P;D;D;D;D	0.89917	0.474;0.999;0.999;1.0;1.0	B;D;D;D;D	0.87578	0.087;0.992;0.983;0.995;0.998	T	0.10405	-1.0631	9	0.54805	T	0.06	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	481;228;258;258;450	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	450;481;450;481;258;258;258;258;228	ENSP00000427018:R450H;ENSP00000384892:R450H;ENSP00000425205:R258H;ENSP00000262231:R258H;ENSP00000423559:R258H;ENSP00000386228:R258H;ENSP00000390665:R228H	ENSP00000262231:R258H	R	+	2	0	RIMS2	104967352	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.553000	0.73918	2.653000	0.90120	0.563000	0.77884	CGT		TCGA-Z5-AAPL-01A-12D-A40W-08	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	0	0	0	6	283	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.963485	6	278	0	37	2								-3.126101	1	1	0	0		1	1	2	3	2.012571	0	0.100000	2	0.108470	0.480000	0.190000	1.000000	0.410000	0.548108	0.480000	0	0.300000	0.910000
KCNQ3	3786	broad.mit.edu	37	8	133141614	133141614	+	Silent	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:133141614C>T	ENST00000388996.4	-	15	2934	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3			70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGTCTGTGTCCGTCTCACCCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000388996.4	0	1	hg19	CCDS34943.1																																																																																				TCGA-Z5-AAPL-01A-12D-A40W-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	0	0	7	188	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	0.980476	7	186	0	30	2								-3.339554	1	1	121412	3	38	1	1	2	3	2.012571	0	0.100000	2	0.108470	0.810000	0.350000	1.000000	1.000000	0.783944	0.810000	0	0.530000	1.000000
PARP10	84875	broad.mit.edu	37	8	145059362	145059362	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:145059362G>A	ENST00000313028.7	-	5	902	c.808C>T	c.(808-810)Cct>Tct	p.P270S	PARP10_ENST00000524918.1_Missense_Mutation_p.P270S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P282S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10			27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GTAGCCCTAGGCCCCTGGGTG	0.652000																								0							SO:0001583	missense			ENST00000313028.7	0	1	hg19	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	2.898	-0.228166	0.06022	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.30182	3.01;3.02;3.0;1.54	3.23	-2.24	0.06909	.	0.851711	0.09771	N	0.758047	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.006;0.012;0.006	B;B;B	0.11329	0.006;0.006;0.006	T	0.36601	-0.9741	10	0.13470	T	0.59	.	7.6289	0.28228	0.6322:0.0:0.3678:0.0	.	282;270;270	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	S	270;270;282;185	ENSP00000431620:P270S;ENSP00000325618:P270S;ENSP00000434776:P282S;ENSP00000314320:P185S	ENSP00000325618:P270S	P	-	1	0	PARP10	145131350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.671000	0.01954	-0.729000	0.04875	-0.266000	0.10368	CCT		TCGA-Z5-AAPL-01A-12D-A40W-08	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	0	0	0	7	333	0	49	1	7.817497e-01	4	133	0	49	2		0	0	0	0	0	2	1	0.978492	7	322	0	49	2								-7.204113	1	1	0	0		1	1	2	3	2.012571	0	0.100000	2	0.108470	0.470000	0.200000	1.000000	0.410000	0.539043	0.470000	0	0.310000	0.860000
PCM1	5108	broad.mit.edu	37	8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:17829972G>A	ENST00000519253.1	+	23	3970	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1240H|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H			Q15154	PCM1_HUMAN	pericentriolar material 1		PCM1/JAK2(30)	48					AGTAGTAACCGCAAAAATCAA	0.383000			T	RET, JAK2	papillary thyroid, CML, MPD										Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0							SO:0001583	missense			ENST00000519253.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680456	0.03353	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.50277	0.75;0.75;0.75	4.97	3.19	0.36642	.	0.364612	0.32416	N	0.006134	T	0.15435	0.0372	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.13145	0.0;0.007;0.0;0.007	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.03034	-1.1080	10	0.27082	T	0.32	-1.6817	4.7527	0.13068	0.3013:0.1584:0.5402:0.0	.	102;1240;1241;1240	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	H	1240;1240;1241	ENSP00000327077:R1240H;ENSP00000431099:R1240H;ENSP00000430521:R1241H	ENSP00000327077:R1240H	R	+	2	0	PCM1	17874252	0.837000	0.29446	1.000000	0.80357	0.087000	0.18053	0.636000	0.24644	0.776000	0.33473	-0.424000	0.05967	CGC		TCGA-Z5-AAPL-01A-12D-A40W-08	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	0	0	0	5	341	1	46	0	7.366289e-04	0	82	1	46	8		0	0	0	0	0	2	0	0.000351	5	341	1	46	23								-2.351312	0	1	120784	5	38	1	1	2	3	2.012571	0	0.100000	2	0.108470	0.340000	0.120000	1.000000	0.290000	0.435849	0.340000	0	0.210000	0.690000
ERLIN2	11160	broad.mit.edu	37	8	37611540	37611540	+	Silent	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:37611540G>A	ENST00000276461.5	+	12	994	c.927G>A	c.(925-927)gcG>gcA	p.A309A	ERLIN2_ENST00000519638.1_Silent_p.A309A	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2			7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		TGGACTCTGCGGGCAGTGTGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000276461.5	0	1	hg19	CCDS6095.1																																																																																				TCGA-Z5-AAPL-01A-12D-A40W-08	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	0	0	1	8	278	0	71	1	2.422494e-01	6	24	0	71	2		0	0	0	0	0	2	1	0.988865	8	273	0	70	2								-2.547914	1	1	121412	3	38	1	1	2	3	2.012571	0	0.100000	2	0.108470	0.630000	0.280000	1.000000	1.000000	0.665130	0.630000	0	0.420000	1.000000
LRRCC1	85444	broad.mit.edu	37	8	86027758	86027758	+	Missense_Mutation	SNP	A	A	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:86027758A>T	ENST00000360375.3	+	6	1018	c.869A>T	c.(868-870)gAt>gTt	p.D290V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D270V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1			43					CATGAAAACGATTTGCAGAAT	0.343000																								0							SO:0001583	missense			ENST00000360375.3	0	1	hg19	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	5.311	0.242664	0.10077	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.34275	1.37;1.4	5.57	3.14	0.36123	.	1.203710	0.06173	N	0.678078	T	0.36580	0.0972	L	0.54323	1.7	0.09310	N	1	P;P;B	0.41188	0.741;0.573;0.011	B;B;B	0.41988	0.372;0.203;0.013	T	0.23868	-1.0176	10	0.49607	T	0.09	-5.7178	4.583	0.12267	0.7396:0.0:0.0908:0.1695	.	270;197;290	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	V	197;290;270	ENSP00000353538:D290V;ENSP00000394695:D270V	ENSP00000353538:D290V	D	+	2	0	LRRCC1	86215010	0.902000	0.30710	0.049000	0.19019	0.001000	0.01503	2.486000	0.45259	0.373000	0.24621	0.482000	0.46254	GAT		TCGA-Z5-AAPL-01A-12D-A40W-08	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	0	0	0	5	163	0	53	0	7.039769e-02	1	11	0	53	2		0	0	0	0	0	2	1	0.938488	5	163	0	53	2								-3.720536	1	1	0	0		1	1	2	3	2.012571	0	0.100000	2	0.108470	0.690000	0.250000	1.000000	1.000000	0.705856	0.690000	0	0.430000	1.000000
VPS13A	23230	broad.mit.edu	37	9	79996923	79996923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:79996923C>T	ENST00000360280.3	+	68	9369	c.9109C>T	c.(9109-9111)Cga>Tga	p.R3037*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					GGAGAGTCTGCGACCTCCTCG	0.343000																								0		GRCh37	CM011922	VPS13A	M		SO:0001587	stop_gained			ENST00000360280.3	0	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	51	17.370726	0.99885	0.0	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.33	5.33	0.75918	.	0.201597	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5934	0.88004	0.0:1.0:0.0:0.0	.	.	.	.	X	3037;2998;3037;3037	.	.	R	+	1	2	VPS13A	79186743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.663000	0.61532	2.494000	0.84150	0.585000	0.79938	CGA		TCGA-Z5-AAPL-01A-12D-A40W-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	0	0	6	294	0	77	0	4.996645e-02	0	15	0	77	2		0	0	0	0	0	2	1	0.964292	6	291	0	77	2								-2.680136	1	1	121412	2	29	1	0	0	0	1.970466	0	0.100000	2	0.080695	0.410000	0.170000	0.770000	0.370000	0.436401	0.410000	0	0.270000	0.590000
GPC3	2719	broad.mit.edu	37	X	132730547	132730547	+	Silent	SNP	G	G	A			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3			36	Acute lymphoblastic leukemia(192;0.000127)				CATCATCACCGCAGTCTCCAC	0.463000			T, D, Mis, N, F, S			Wilms tumour			Simpson-Golabi-Behmel syndrome					yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0							SO:0001819	synonymous_variant	Familial Cancer Database	SGBS	ENST00000370818.3	0	1	hg19	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	2.995	-0.207259	0.06180	.	.	ENSG00000147257	ENST00000406757	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.72803	0.3506	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	T	0.82566	-0.0393	4	.	.	.	.	22.4363	0.99971	0.2327:0.0:0.7673:0.0	.	.	.	.	V	228	.	.	A	-	2	0	GPC3	132558213	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-3.320000	0.00513	-3.839000	0.00100	-1.679000	0.00737	GCG		TCGA-Z5-AAPL-01A-12D-A40W-08	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	0	0	0	7	743	0	129	0	8.714832e-02	0	45	0	129	2		0	0	0	0	0	2	1	0.979603	7	733	0	128	2								-2.126687	0	1	121410	6	41	1	0	1	1			0.100000	2	0.100000	0.190000	0.080000	0.360000	0.180000	0.210200	0.190000	0	0.130000	0.280000
SPIN2B	474343	broad.mit.edu	37	X	57146293	57146293	+	Missense_Mutation	SNP	T	T	G			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:57146293T>G	ENST00000333933.3	-	2	1080	c.770A>C	c.(769-771)aAg>aCg	p.K257T	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T|SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B			5					CAGTTAGGACTTTTTCACCAA	0.368000																								0							SO:0001583	missense			ENST00000333933.3	0	1	hg19	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.168787	0.00315	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933	T;T;T;T	0.47528	0.89;0.89;0.84;0.89	2.42	1.17	0.20885	.	0.157221	0.41500	D	0.000871	T	0.12305	0.0299	N	0.00926	-1.1	0.27097	N	0.962701	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	10	0.07813	T	0.8	-1.1526	2.8319	0.05503	0.2596:0.0:0.2624:0.478	.	257	Q9BPZ2	SPI2B_HUMAN	T	257;257;156;257	ENSP00000275988:K257T;ENSP00000364047:K257T;ENSP00000364045:K156T;ENSP00000335008:K257T	ENSP00000275988:K257T	K	-	2	0	SPIN2B	57163018	1.000000	0.71417	0.920000	0.36463	0.473000	0.32948	4.655000	0.61476	0.241000	0.21283	0.143000	0.16000	AAG		TCGA-Z5-AAPL-01A-12D-A40W-08	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	0	0	0	8	346	0	101	1	4.077002e-03	2	2	0	101	2		0	0	0	0	0	2	1	0.939656	3	212	0	151	2								-3.206887	1	0	0	0		1	0	1	1			0.100000	2	0.100000	0.460000	0.220000	0.820000	0.440000	0.492367	0.460000	0	0.320000	0.640000
