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	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRHL3	57822	broad.mit.edu	37	1	24671385	24671385	+	Splice_Site	SNP	A	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:24671385A>C	uc001biy.2	+	12	1481	c.1435_splice	c.e12-2	p.A479_splice	GRHL3_uc001bix.2_Splice_Site_p.A474_splice|GRHL3_uc001biz.2_Splice_Site_p.A381_splice	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform						regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACTTCATTGCAGGCAGCCCCC	0.572000													24	45					0	0	0.667858	0	0
WDR65	149465	broad.mit.edu	37	1	43675514	43675514	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:43675514G>A	uc001cip.1	+	11	1977	c.1856G>A	c.(1855-1857)CGT>CAT	p.R619H	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R608H|WDR65_uc001ciq.1_Missense_Mutation_p.R619H	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552000													38	61					0	0	0.804634	0	0
TTC4	7268	broad.mit.edu	37	1	55181589	55181589	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:55181589A>G	uc001cxx.3	+	1	61	c.8A>G	c.(7-9)CAA>CGA	p.Q3R	C1orf175_uc001cxq.2_Intron|TTC4_uc001cxw.3_Missense_Mutation_p.Q3R|TTC4_uc001cxv.2_5'UTR	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	3							binding				0						GCTATGGAACAACCTGGGCAG	0.642000													8	15					0	0	0.278610	0	0
LOC400759	400759	broad.mit.edu	37	1	89889882	89889882	+	RNA	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:89889882A>G	uc009wcy.1	+	5		c.623A>G				NR_003133				Homo sapiens cDNA, FLJ17004.												0						GCAAAGAAAGAATGAGCAGAT	0.453000													161	319					0	0	0.870114	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:145360624G>A	uc001end.3	+	76	9509	c.9474G>A	c.(9472-9474)TCG>TCA	p.S3158S	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3083											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478000													5	4					0	0	0.217242	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149376881	149376881	+	RNA	SNP	G	A	A	rs148842033	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:149376881G>A	uc010pbh.1	+	5		c.820G>A				NR_027484				Homo sapiens cDNA FLJ77773 complete cds, highly similar to Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.												0						AAGACTCTGGGTTATACTGGT	0.502000													3	15					0	0	0.115264	0	0
LCE2A	353139	broad.mit.edu	37	1	152671462	152671462	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:152671462C>T	uc001faj.2	+	2	136	c.85C>T	c.(85-87)CGA>TGA	p.R29*		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	29	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGTGCCGACCTCAGTG	0.637000													71	123					0	0	0.870114	0	0
DDR2	4921	broad.mit.edu	37	1	162746049	162746049	+	Silent	SNP	C	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:162746049C>A	uc001gcf.2	+	17	2637	c.2172C>A	c.(2170-2172)ATC>ATA	p.I724I	DDR2_uc001gcg.2_Silent_p.I724I	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	724	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTACACAATCAAGATAGCTG	0.488000													72	162					5.97199e-22	6.32036e-22	0.870114	1	0
PTPRC	5788	broad.mit.edu	37	1	198687263	198687263	+	Silent	SNP	A	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:198687263A>T	uc001gur.1	+	14	1665	c.1485A>T	c.(1483-1485)TCA>TCT	p.S495S	PTPRC_uc001gus.1_Silent_p.S447S|PTPRC_uc001gut.1_Silent_p.S334S|PTPRC_uc009wzf.1_Silent_p.S383S|PTPRC_uc010ppg.1_Silent_p.S431S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	495	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CCATGACATCAGATAATAGTA	0.388000													23	35					0	0	0.667858	0	0
PLXNA2	5362	broad.mit.edu	37	1	208272302	208272302	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:208272302C>A	uc001hgz.2	-	6	2378	c.1620G>T	c.(1618-1620)AGG>AGT	p.R540S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	540	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCATTTGTCCCTGCGGGAGC	0.557000													13	17					5.50884e-06	5.64212e-06	0.411799	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508784	37508784	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:37508784A>G	uc001iza.1	+	34	4075	c.3976A>G	c.(3976-3978)AAC>GAC	p.N1326D		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CCATTTAAAAAACCGTATATA	0.259000													2	3					0	0	0.115264	0	0
AIFM2	84883	broad.mit.edu	37	10	71883202	71883202	+	Missense_Mutation	SNP	T	C	C	rs140958169		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:71883202T>C	uc010qjg.1	-	2	266	c.253A>G	c.(253-255)ATA>GTA	p.I85V	AIFM2_uc001jqp.1_Missense_Mutation_p.I85V	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	85					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						TTCAGGTCTATCCCCACTACT	0.597000													5	73					0	0	0.217242	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373779	81373779	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:81373779G>A	uc001kap.2	+	6	778	c.657G>A	c.(655-657)CGG>CGA	p.R219R	SFTPA1_uc001kaq.2_Silent_p.R219R|SFTPA1_uc009xry.2_Silent_p.R234R|SFTPA1_uc001kar.2_Silent_p.R219R|SFTPA1_uc010qlt.1_Silent_p.R160R|SFTPA1_uc009xrz.2_Silent_p.R149R|SFTPA1_uc009xsa.2_Silent_p.R219R|SFTPA1_uc009xsf.2_RNA	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	surfactant protein A1 isoform 1	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCGCAGGTCGGGGAAAAGAGC	0.562000													88	78					0	0	0.870114	0	0
PTEN	5728	broad.mit.edu	37	10	89717727	89717727	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:89717727G>C	uc001kfb.2	+	8	1783	c.752G>C	c.(751-753)GGT>GCT	p.G251A		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	251	C2 tensin-type.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.G251C(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G251V(1)|p.G251fs*6(1)|p.G251D(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTGTGTGTGGTGATATCAAA	0.398000		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			19	20					0	0	0.592651	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057297	102057297	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:102057297G>A	uc001kqx.1	-	5	1181	c.798C>T	c.(796-798)AGC>AGT	p.S266S	PKD2L1_uc009xwm.1_Silent_p.S219S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	266	Extracellular (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCCACCTCCGCTGTAGCTTG	0.627000													19	25					0	0	0.592651	0	0
MUC6	4588	broad.mit.edu	37	11	1025338	1025338	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:1025338G>A	uc001lsw.2	-	23	2880	c.2829C>T	c.(2827-2829)AAC>AAT	p.N943N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	943	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTAGTTTCTGTCCG	0.677000													54	94					0	0	0.870114	0	0
OR8J3	81168	broad.mit.edu	37	11	55904779	55904779	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:55904779C>T	uc010riz.1	-	1	416	c.416G>A	c.(415-417)CGG>CAG	p.R139Q		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473000													33	78					0	0	0.740014	0	0
HSPA8	3312	broad.mit.edu	37	11	122928498	122928498	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:122928498C>G	uc001pyo.2	-	9	1963	c.1885G>C	c.(1885-1887)GGA>CGA	p.G629R	HSPA8_uc009zbc.2_Missense_Mutation_p.G393R|HSPA8_uc001pyp.2_Missense_Mutation_p.G476R|HSPA8_uc010rzu.1_Missense_Mutation_p.G552R	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	629					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGGAGCTCCACCACCAGGA	0.512000													52	99					0	0	0.870114	0	0
OR10G4	390264	broad.mit.edu	37	11	123886716	123886716	+	Silent	SNP	C	T	T	rs144654389	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:123886716C>T	uc010sac.1	+	1	435	c.435C>T	c.(433-435)ACC>ACT	p.T145T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTGGCCACCGGCACTTGGC	0.547000													95	182					0	0	0.870114	0	0
ATF7IP	55729	broad.mit.edu	37	12	14576907	14576907	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:14576907G>A	uc001rbw.2	+	2	216	c.58G>A	c.(58-60)GTG>ATG	p.V20M	ATF7IP_uc010shs.1_Missense_Mutation_p.V20M|ATF7IP_uc001rbu.2_Missense_Mutation_p.V20M|ATF7IP_uc001rbv.1_Missense_Mutation_p.V20M|ATF7IP_uc001rbx.2_Missense_Mutation_p.V20M|ATF7IP_uc010sht.1_Missense_Mutation_p.V20M|ATF7IP_uc001rby.3_Missense_Mutation_p.V20M|ATF7IP_uc001rbz.1_Missense_Mutation_p.V20M|ATF7IP_uc001rca.2_Missense_Mutation_p.V20M|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	20					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AACGATGAGAGTGAGTGATCG	0.358000													20	50					0	0	0.608945	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103604	15103604	+	Missense_Mutation	SNP	C	T	T	rs149654565		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:15103604C>T	uc001rcq.1	-	2	147	c.43G>A	c.(43-45)GAT>AAT	p.D15N	ARHGDIB_uc001rcp.1_5'Flank	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	15					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						AGCTCATCATCATCATCCTCC	0.438000													39	59					0	0	0.819951	0	0
ABCC9	10060	broad.mit.edu	37	12	22001088	22001088	+	Silent	SNP	G	A	A	rs2291550	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:22001088G>A	uc001rfi.1	-	23	2882	c.2862C>T	c.(2860-2862)GAC>GAT	p.D954D	ABCC9_uc001rfh.2_Silent_p.D954D|ABCC9_uc001rfj.1_Silent_p.D918D	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	954	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCTACCTTCGTCTTCGTCCT	0.433000													24	32					0	0	0.667858	0	0
ACVRL1	94	broad.mit.edu	37	12	52309035	52309035	+	Missense_Mutation	SNP	C	T	T	rs148640185		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52309035C>T	uc001rzj.2	+	7	1082	c.799C>T	c.(799-801)CGC>TGC	p.R267C	ACVRL1_uc001rzk.2_Missense_Mutation_p.R267C|ACVRL1_uc010snm.1_Missense_Mutation_p.R93C	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	267	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGACCTCCCGCAACTCGAG	0.468000									Hereditary_Hemorrhagic_Telangiectasia				18	62					0	0	0.557998	0	0
KRT83	3889	broad.mit.edu	37	12	52714809	52714809	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52714809G>A	uc001saf.2	-	1	374	c.311C>T	c.(310-312)GCG>GTG	p.A104V		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	104	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCACTGCGCGTTGGGGTC	0.627000													105	180					0	0	0.870114	0	0
SART3	9733	broad.mit.edu	37	12	108919286	108919286	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:108919286T>C	uc001tmz.1	-	17	2706	c.2471A>G	c.(2470-2472)CAT>CGT	p.H824R	SART3_uc001tmy.1_Missense_Mutation_p.H350R|SART3_uc009zux.1_Missense_Mutation_p.H436R|SART3_uc010swx.1_Missense_Mutation_p.H788R	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	824	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CACGGTGCCATGAGCCTTACA	0.507000									Porokeratosis				22	56					0	0	0.608945	0	0
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	A	A	rs121918454		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:112888199C>A	uc001ttx.2	+	3	595	c.215C>A	c.(214-216)GCC>GAC	p.A72D	PTPN11_uc001ttw.1_Missense_Mutation_p.A72D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	72	SH2 1.		A -> T (in JMML).|A -> V (in JMML).|A -> S (in NS1).|A -> G (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(34)|p.A72T(31)|p.A72D(3)		haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						GAGAAATTTGCCACTTTGGCT	0.418000			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				42	78					2.95478e-19	3.10129e-19	0.840704	1	0
MORN3	283385	broad.mit.edu	37	12	122091089	122091089	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:122091089G>A	uc001uax.2	-	4	711	c.540C>T	c.(538-540)CAC>CAT	p.H180H	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607000													30	70					0	0	0.740014	0	0
FANCM	57697	broad.mit.edu	37	14	45623200	45623200	+	Silent	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr14:45623200A>G	uc001wwd.3	+	6	1227	c.1128A>G	c.(1126-1128)CAA>CAG	p.Q376Q	FANCM_uc001wwc.2_Silent_p.Q376Q|FANCM_uc010anf.2_Silent_p.Q350Q|FANCM_uc001wwe.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	376					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TATTGCAGCAAATGGGAATGA	0.284000								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				29	66					0	0	0.706142	0	0
HCN4	10021	broad.mit.edu	37	15	73616057	73616057	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:73616057T>C	uc002avp.2	-	8	3371	c.2377A>G	c.(2377-2379)ATA>GTA	p.I793V		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	793	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GTGAGGGCTATGGCCACAGAA	0.697000													19	28					0	0	0.557998	0	0
Unknown	0	broad.mit.edu	37	15	82620400	82620400	+	RNA	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:82620400T>C	uc010bls.1	+	1		c.493T>C								Homo sapiens mRNA for FLJ00317 protein.																		GACCCAAGGGTCAGCCTGAGT	0.672000													6	19					0	0	0.278610	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657167	100657167	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:100657167G>A	uc002bvv.1	-	13	1852	c.1773C>T	c.(1771-1773)GTC>GTT	p.V591V	ADAMTS17_uc002bvx.1_Silent_p.V348V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	591	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTTCTCGCAGACCGCATGTT	0.627000													18	27					0	0	0.575678	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817937	24817937	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:24817937C>T	uc002dmm.2	+	17	4486	c.4372C>T	c.(4372-4374)CGT>TGT	p.R1458C	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1205C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1156C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1097C|TNRC6A_uc002dmp.2_Missense_Mutation_p.R59C|TNRC6A_uc002dmq.2_Missense_Mutation_p.R125C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1458					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GCAACAATCTCGTCAACTTGA	0.443000													44	71					0	0	0.870114	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	C	C	rs79284655		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:32890639T>C	uc002edh.1	-	5	423	c.247A>G	c.(247-249)AAG>GAG	p.K83E	SLC6A10P_uc002edi.1_RNA					RecName: Full=Transporter;												0						ACCAGCGGCTTGTAGTACACA	0.453000													3	29					0	0	0.217242	0	0
KCTD19	146212	broad.mit.edu	37	16	67327473	67327473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:67327473C>T	uc002esu.2	-	12	2243	c.2192G>A	c.(2191-2193)TGG>TAG	p.W731*	KCTD19_uc002est.2_Nonsense_Mutation_p.W503*|KCTD19_uc010vjj.1_Nonsense_Mutation_p.W474*	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	731						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCTTGCTCCAGTCCTTCAG	0.458000													13	158					0	0	0.500413	0	0
PKD1L2	114780	broad.mit.edu	37	16	81155301	81155301	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81155301C>T	uc002fgh.1	-	40	6502	c.6502G>A	c.(6502-6504)GCG>ACG	p.A2168T	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2168	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TGCAGGGCCGCGTGCGTAAAA	0.597000													4	14					0	0	0.150653	0	0
PKD1L2	114780	broad.mit.edu	37	16	81171126	81171126	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81171126C>T	uc002fgh.1	-	34	5635	c.5635G>A	c.(5635-5637)GCT>ACT	p.A1879T	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1879	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAGAAAGCAGCGAATCCCAGC	0.577000													7	10					0	0	0.278610	0	0
MYH8	4626	broad.mit.edu	37	17	10318643	10318643	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:10318643G>C	uc002gmm.2	-	8	802	c.707C>G	c.(706-708)GCC>GGC	p.A236G	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	236	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CACAGTTTTGGCATTGCCAAA	0.483000									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				57	117					0	0	0.870114	0	0
GRAP	10750	broad.mit.edu	37	17	18927576	18927576	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:18927576G>A	uc002guy.2	-	4	517	c.420C>T	c.(418-420)ATC>ATT	p.I140I		NM_006613	NP_006604	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	140	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity				0	all_cancers(12;0.0183)					GCTTCTTGGCGATGGTGGTGG	0.622000													6	17					0	0	0.217242	0	0
NF1	4763	broad.mit.edu	37	17	29664446	29664446	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664446T>A	uc002hgg.2	+	43	6821	c.6488T>A	c.(6487-6489)TTG>TAG	p.L2163*	NF1_uc002hgh.2_Nonsense_Mutation_p.L2142*|NF1_uc010cso.2_Nonsense_Mutation_p.L351*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2163					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.E2143_S2180del(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTTTACTTGCTGTTTGGC	0.423000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	36					0	0	0.592651	0	0
NF1	4763	broad.mit.edu	37	17	29664466	29664466	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664466G>C	uc002hgg.2	+	43	6841	c.6508G>C	c.(6508-6510)GTC>CTC	p.V2170L	NF1_uc002hgh.2_Missense_Mutation_p.V2149L|NF1_uc010cso.2_Missense_Mutation_p.V358L|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2170					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.E2143_S2180del(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGCAAAGTCAAGTCAGC	0.443000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	43					0	0	0.681144	0	0
Unknown	0	broad.mit.edu	37	17	39296152	39296152	+	RNA	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:39296152A>G	uc010cxk.1	-	1		c.552T>C								Homo sapiens partial mRNA for keratin associated protein 4.6 (KRTAP4.6 gene).																		AGCACAAGGGACGGGGGCAGG	0.507000													3	16					0	0	0.335167	0	0
Unknown	0	broad.mit.edu	37	17	39296167	39296167	+	RNA	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:39296167A>G	uc010cxk.1	-	1		c.537T>C								Homo sapiens partial mRNA for keratin associated protein 4.6 (KRTAP4.6 gene).																		GGCAGGTGGAAATGACACAGG	0.478000													3	19					0	0	0.361761	0	0
Unknown	0	broad.mit.edu	37	17	39567583	39567583	+	RNA	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:39567583G>A	uc002hwo.1	+	3		c.2048G>A								Homo sapiens cDNA FLJ41849 fis, clone NT2RI3003409.																		ctgATCTGGTGCACCGCAAAC	0.308000													5	4					0	0	0.184627	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478588	14478588	+	RNA	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:14478588C>T	uc010xai.1	-	3		c.976G>A				NR_024076				Homo sapiens cDNA clone IMAGE:30390722, containing frame-shift errors.												0						AACGTTTACACGCAACAGGCA	0.423000													8	8					0	0	0.307466	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60052048	60052048	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:60052048C>T	uc002lin.2	+	10	1670	c.1632C>T	c.(1630-1632)GGC>GGT	p.G544G	TNFRSF11A_uc010dpv.2_Silent_p.G227G	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	544	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				ACTTCAAGGGCGACATCATCG	0.652000									Paget_Disease_of_Bone				10	23					0	0	0.387290	0	0
LMNB2	84823	broad.mit.edu	37	19	2433894	2433894	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:2433894G>A	uc002lvy.2	-	8	1439	c.1352C>T	c.(1351-1353)TCG>TTG	p.S451L	LMNB2_uc002lwa.1_Missense_Mutation_p.S471L	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	451	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCTACCCGAGGCCGAGGC	0.667000													46	130					0	0	0.870114	0	0
KHSRP	8570	broad.mit.edu	37	19	6416895	6416895	+	Splice_Site	SNP	T	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:6416895T>G	uc002mer.3	-	13	1293	c.1183_splice	c.e13-1	p.S395_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						GGGACCACTCTGCAAGACAAG	0.687000													24	62					0	0	0.681144	0	0
STXBP2	6813	broad.mit.edu	37	19	7705819	7705819	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:7705819G>A	uc002mha.3	+	6	404	c.359G>A	c.(358-360)CGC>CAC	p.R120H	STXBP2_uc002mhb.3_Missense_Mutation_p.R117H|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R131H|STXBP2_uc010dvk.2_Missense_Mutation_p.R88H|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_Missense_Mutation_p.R281H	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	120					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1						GAGCTAGGCCGCTCTCGTCTG	0.662000													47	159					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9063480	9063480	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9063480G>A	uc002mkp.2	-	3	24170	c.23966C>T	c.(23965-23967)ACA>ATA	p.T7989I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7991	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCTGGTAATGTGGAGGAAAC	0.468000													21	53					0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9065959	9065959	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9065959G>T	uc002mkp.2	-	3	21691	c.21487C>A	c.(21487-21489)CTG>ATG	p.L7163M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7165	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCAGTGGTCAGTCTCTCATCT	0.512000													51	109					4.44712e-29	4.82722e-29	0.870114	1	0
AP1M2	10053	broad.mit.edu	37	19	10687903	10687903	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:10687903C>T	uc002mpc.2	-	9	1102	c.1018G>A	c.(1018-1020)GTC>ATC	p.V340I	AP1M2_uc002mpd.2_Missense_Mutation_p.V342I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	340	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAAATCACGACGTTTCTCTCC	0.597000													6	29					0	0	0.248553	0	0
MAST1	22983	broad.mit.edu	37	19	12977541	12977541	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:12977541C>T	uc002mvm.2	+	18	2232	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CGTGGAAATCCGCCAGTTCTC	0.622000													12	29					0	0	0.435327	0	0
MED26	9441	broad.mit.edu	37	19	16687579	16687579	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:16687579C>T	uc002nen.1	-	3	1323	c.1062G>A	c.(1060-1062)CCG>CCA	p.P354P	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	354					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						CCTTGCAGCCCGGCCCCGCCA	0.706000													13	25					0	0	0.411799	0	0
ACTN4	81	broad.mit.edu	37	19	39212280	39212280	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:39212280C>T	uc002oja.1	+	12	1453	c.1394C>T	c.(1393-1395)GCG>GTG	p.A465V	ACTN4_uc010egc.1_Missense_Mutation_p.A465V	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	465	Spectrin 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGGCTGCGCACCAGGAC	0.617000													29	90					0	0	0.740014	0	0
IRGC	56269	broad.mit.edu	37	19	44222962	44222962	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:44222962G>A	uc002oxh.2	+	2	399	c.252G>A	c.(250-252)GCG>GCA	p.A84A		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	84						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682000													44	152					0	0	0.870114	0	0
RUVBL2	10856	broad.mit.edu	37	19	49518835	49518835	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:49518835G>A	uc002plr.1	+	14	1271	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	RUVBL2_uc002plq.1_Silent_p.Q331Q|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.E375K|RUVBL2_uc010yac.1_Missense_Mutation_p.E375K	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	420					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGGTACAGAAGTGCAGGT	0.582000													40	109					0	0	0.834066	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939931	50939931	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:50939931C>T	uc002psf.2	+	5	454	c.403C>T	c.(403-405)CGC>TGC	p.R135C		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	135	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGTATTACCGCCTCGAGGT	0.612000													42	146					0	0	0.870114	0	0
LILRB3	11025	broad.mit.edu	37	19	54746595	54746595	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:54746595C>T	uc010erh.1	-	1	130	c.6G>A	c.(4-6)ACG>ACA	p.T2T	LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.T2T|LILRA6_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.T2T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.T2T|LILRA6_uc010yep.1_Silent_p.T2T|LILRA6_uc010yeq.1_Silent_p.T2T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.T2T|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	2					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647000													13	130					0	0	0.575678	0	0
NLRP5	126206	broad.mit.edu	37	19	56539531	56539531	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:56539531C>T	uc002qmj.2	+	7	1932	c.1932C>T	c.(1930-1932)GAC>GAT	p.D644D	NLRP5_uc002qmi.2_Silent_p.D625D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	644						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCGAAGACGTAAGGAGGC	0.552000													37	114					0	0	0.788014	0	0
C2orf71	388939	broad.mit.edu	37	2	29295046	29295046	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:29295046G>A	uc002rmt.1	-	1	2082	c.2082C>T	c.(2080-2082)GAC>GAT	p.D694D		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	694					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGCCTTGTTCGTCCTCAGGAT	0.532000													42	93					0	0	0.859065	0	0
EHBP1	23301	broad.mit.edu	37	2	63182658	63182658	+	Silent	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:63182658T>C	uc002sby.2	+	15	2910	c.2428T>C	c.(2428-2430)TTG>CTG	p.L810L	EHBP1_uc010fcp.2_Silent_p.L775L|EHBP1_uc002sbz.2_Silent_p.L775L|EHBP1_uc002scb.2_Silent_p.L775L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	810	Potential.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGCATCGATTGTTATCTAG	0.358000									Hereditary_Prostate_Cancer				7	17					0	0	0.278610	0	0
ZNF638	27332	broad.mit.edu	37	2	71576931	71576931	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:71576931T>A	uc002shx.2	+	2	1166	c.847T>A	c.(847-849)TCC>ACC	p.S283T	ZNF638_uc010fec.2_Missense_Mutation_p.S389T|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.S283T|ZNF638_uc002shy.2_Missense_Mutation_p.S283T|ZNF638_uc002shz.2_Missense_Mutation_p.S283T|ZNF638_uc002sia.2_Missense_Mutation_p.S283T|ZNF638_uc002sib.1_Missense_Mutation_p.S283T	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	283					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAATAATCGGTCCTTTTTCTC	0.428000													58	115					0	0	0.870114	0	0
Unknown	0	broad.mit.edu	37	2	89340006	89340006	+	RNA	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:89340006G>A	uc010ytr.1	-	64		c.5853C>T			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																		TCTGGATGTCGCATCTGGAAC	0.458000													73	121					0	0	0.870114	0	0
SNRNP200	23020	broad.mit.edu	37	2	96962796	96962796	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:96962796C>T	uc002svu.2	-	12	1476	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	464						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						AGCTTTTCCACTGGAAGCAGT	0.483000													28	42					0	0	0.740014	0	0
CNGA3	1261	broad.mit.edu	37	2	98999852	98999852	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:98999852G>A	uc002syt.2	+	5	814	c.397G>A	c.(397-399)GCC>ACC	p.A133T	CNGA3_uc002syu.2_Intron|CNGA3_uc010fij.2_Missense_Mutation_p.A137T	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	133					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						TTCCCGCAGCGCCTGGCCCCT	0.587000													20	54					0	0	0.624587	0	0
TTN	7273	broad.mit.edu	37	2	179577501	179577501	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:179577501G>T	uc010zfg.1	-	91	23743	c.23519C>A	c.(23518-23520)TCA>TAA	p.S7840*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S4501*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8767							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7840H(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTTTGTGATGTATCTAC	0.423000													13	38					2.68362e-12	2.77089e-12	0.411799	1	0
UGT1A4	54657	broad.mit.edu	37	2	234627498	234627498	+	Missense_Mutation	SNP	G	A	A	rs149314940		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:234627498G>A	uc002vux.2	+	1	61	c.32G>A	c.(31-33)CGG>CAG	p.R11Q	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.R11Q	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	11					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	CCCCTGCCGCGGCTGGCCACA	0.627000											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	60					0	0	0.624587	0	0
C20orf185	359710	broad.mit.edu	37	20	31654682	31654682	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:31654682A>G	uc002wym.1	+	9	977	c.977A>G	c.(976-978)GAG>GGG	p.E326G		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	326					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						TTGCTCCCTGAGGTGAGTGAC	0.353000													27	105					0	0	0.681144	0	0
PFDN4	5203	broad.mit.edu	37	20	52831957	52831957	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:52831957A>C	uc002xwx.2	+	3	389	c.251A>C	c.(250-252)CAA>CCA	p.Q84P		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	84					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding				0	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GAAGAAACGCAAGAAATGTTA	0.313000													12	47					0	0	0.435327	0	0
C20orf108	116151	broad.mit.edu	37	20	54941327	54941327	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:54941327C>T	uc002xxc.2	+	3	642	c.563C>T	c.(562-564)CCA>CTA	p.P188L		NM_080821	NP_543011	Q96KR6	CT108_HUMAN	hypothetical protein LOC116151	188	DUF1279.					integral to membrane					0			Colorectal(105;0.202)			TTTAAACCTCCAGCTGCAAAA	0.398000													23	90					0	0	0.654019	0	0
HRH3	11255	broad.mit.edu	37	20	60793682	60793682	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:60793682G>A	uc002ycf.2	-	2	579	c.282C>T	c.(280-282)TAC>TAT	p.Y94Y	HRH3_uc002ycg.2_Silent_p.Y94Y|HRH3_uc002ych.2_Silent_p.Y94Y|HRH3_uc002yci.2_Silent_p.Y94Y	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	94	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGTCAGCACGTAGGGTACAT	0.632000													14	50					0	0	0.479597	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43810090	43810090	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr21:43810090T>C	uc002zbb.2	-	3	352	c.151A>G	c.(151-153)ATC>GTC	p.I51V	TMPRSS3_uc002zaz.2_5'Flank|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.I51V|TMPRSS3_uc002zbd.2_Missense_Mutation_p.I51V	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	51	Helical; Signal-anchor for type II membrane protein; (Potential).			LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						ATGACGATGATTGGAAAAAAC	0.433000													28	54					0	0	0.693898	0	0
IQCF1	132141	broad.mit.edu	37	3	51929217	51929217	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:51929217G>A	uc003dbv.2	-	4	405	c.307C>T	c.(307-309)CGG>TGG	p.R103W	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	103										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTATCAGCCGCCACCAGCAC	0.637000													59	82					0	0	0.870114	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98503881	98503881	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:98503881T>A	uc003dsz.2	+	6	664	c.428T>A	c.(427-429)ATA>AAA	p.I143K	ST3GAL6_uc003dsy.2_Missense_Mutation_p.I57K|ST3GAL6_uc003dta.2_Intron|ST3GAL6_uc003dtb.2_5'UTR|ST3GAL6_uc003dtc.2_Missense_Mutation_p.I143K|ST3GAL6_uc010hpd.2_Missense_Mutation_p.I196K	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	143	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						GATGTAATAATAAGGTAAATA	0.348000													14	24					0	0	0.457914	0	0
TRIM42	287015	broad.mit.edu	37	3	140401985	140401985	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:140401985C>T	uc003eto.1	+	2	1214	c.1023C>T	c.(1021-1023)ATC>ATT	p.I341I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	341						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						TCAGCGCCATCGCCAAGTTCA	0.542000													21	54					0	0	0.624587	0	0
PCDH7	5099	broad.mit.edu	37	4	30725552	30725552	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr4:30725552C>A	uc003gsk.1	+	1	3516	c.2508C>A	c.(2506-2508)CAC>CAA	p.H836Q	PCDH7_uc011bxw.1_Missense_Mutation_p.H789Q|PCDH7_uc011bxx.1_Missense_Mutation_p.H836Q	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	836	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CTCTGGTGCACGTGTTTGTCA	0.493000													24	33					3.10358e-05	3.15324e-05	0.624587	1	0
SPEF2	79925	broad.mit.edu	37	5	35697831	35697831	+	Silent	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:35697831T>C	uc003jjo.2	+	15	2188	c.2077T>C	c.(2077-2079)TTG>CTG	p.L693L	SPEF2_uc003jjq.3_Silent_p.L688L|SPEF2_uc003jjp.1_Silent_p.L179L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	693					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAGAACAGTTGCTGAAGAA	0.353000													23	43					0	0	0.706142	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102513667	102513667	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:102513667C>G	uc003kod.3	+	23	3259	c.2740C>G	c.(2740-2742)CCA>GCA	p.P914A	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.P914A|PPIP5K2_uc003kof.2_Missense_Mutation_p.P215A	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	914					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TGGATATAGACCAGCTTCCAG	0.378000													21	76					0	0	0.681144	0	0
APBB3	10307	broad.mit.edu	37	5	139941733	139941733	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:139941733T>A	uc003lgd.1	-	6	937	c.578A>T	c.(577-579)CAG>CTG	p.Q193L	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.Q193L|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	193	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGAGGCTGGCAGTGGAT	0.602000													28	53					0	0	0.706142	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869027	140869027	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:140869027T>C	uc003lla.1	+	1	220	c.220T>C	c.(220-222)TAT>CAT	p.Y74H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.Y74H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	74	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGGCGCTATTTTTCCCT	0.562000													56	57					0	0	0.870114	0	0
CD74	972	broad.mit.edu	37	5	149782733	149782733	+	Silent	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:149782733G>A	uc003lsc.2	-	7	779	c.768C>T	c.(766-768)AAC>AAT	p.N256N	CD74_uc003lsb.2_Intron|CD74_uc003lse.2_Intron|CD74_uc003lsd.2_Intron|CD74_uc003lsf.1_Silent_p.N256N	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	256	Thyroglobulin type-1.|Extracellular (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTGCCGTTGGGGAAGA	0.597000			T	ROS1	NSCLC								22	66					0	0	0.608945	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476111	156476111	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:156476111G>A	uc010jij.1	-	5	904	c.719C>T	c.(718-720)ACG>ATG	p.T240M	HAVCR1_uc011ddl.1_Missense_Mutation_p.T71M|HAVCR1_uc003lwi.2_Missense_Mutation_p.T240M	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	235	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGTGTCGTAGGGTGGGT	0.483000													47	91					0	0	0.870114	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683145	50683145	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr6:50683145C>A	uc003paf.2	+	2	868	c.356C>A	c.(355-357)GCG>GAG	p.A119E	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	119							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CTGCACAATGCGCGGGCGCTC	0.622000													58	105					6.60958e-23	7.05392e-23	0.870114	1	0
MACC1	346389	broad.mit.edu	37	7	20198442	20198442	+	Silent	SNP	G	T	T	rs149661432	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:20198442G>T	uc003sus.3	-	5	1851	c.1542C>A	c.(1540-1542)CTC>CTA	p.L514L	MACC1_uc010kug.2_Silent_p.L514L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						GCAGATTCGAGAGTCTTTTTA	0.393000													53	129					4.17463e-26	4.49303e-26	0.870114	1	0
LOC442308	442308	broad.mit.edu	37	7	55713844	55713844	+	RNA	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:55713844C>T	uc010kzj.2	+	1		c.533C>T				NR_003598				Homo sapiens similar to tubulin, beta 5 (LOC442308), non-coding RNA.												0						GTATCTGACACCGTGGTTGAG	0.478000													17	49					0	0	0.557998	0	0
KEL	3792	broad.mit.edu	37	7	142658923	142658923	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:142658923G>A	uc003wcb.2	-	2	250	c.40C>T	c.(40-42)CGC>TGC	p.R14C		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	14	Cytoplasmic (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					GCCTGGCTGCGTTCCCTCGGC	0.542000													107	346					0	0	0.870114	0	0
NOBOX	135935	broad.mit.edu	37	7	144096940	144096940	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:144096940C>T	uc011kue.1	-	6	1064	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	355	Homeobox.		R -> H (in POF5).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					CTTGGCCCGGCGATTCTGGAA	0.542000													10	24					0	0	0.361761	0	0
MSR1	4481	broad.mit.edu	37	8	16026364	16026364	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:16026364C>T	uc003wwz.2	-	4	431	c.233G>A	c.(232-234)TGG>TAG	p.W78*	MSR1_uc010lsu.2_Nonsense_Mutation_p.W96*|MSR1_uc003wxa.2_Nonsense_Mutation_p.W78*|MSR1_uc003wxb.2_Nonsense_Mutation_p.W78*|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	78	Spacer (Probable).|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCGTTTCCCACTTCAGGAG	0.323000													25	53					0	0	0.667858	0	0
PSD3	23362	broad.mit.edu	37	8	18490301	18490301	+	Silent	SNP	T	C	C	rs142080320		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:18490301T>C	uc003wza.2	-	11	2335	c.2232A>G	c.(2230-2232)AAA>AAG	p.K744K	PSD3_uc003wyx.3_Silent_p.K73K|PSD3_uc003wyy.2_Silent_p.K210K|PSD3_uc003wyz.2_Silent_p.K45K	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	745					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGACTTTTTTTTCTCTTCAT	0.358000													21	24					0	0	0.624587	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969288	22969288	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:22969288T>C	uc003xcy.2	+	2	317	c.116T>C	c.(115-117)GTG>GCG	p.V39A	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	39	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCAGACAGTGGCCCCACAG	0.488000													26	47					0	0	0.717897	0	0
GPR124	25960	broad.mit.edu	37	8	37686441	37686441	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:37686441C>T	uc003xkj.2	+	3	737	c.374C>T	c.(373-375)CCG>CTG	p.P125L	GPR124_uc003xki.2_Missense_Mutation_p.P125L|GPR124_uc010lvy.2_Missense_Mutation_p.P125L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	125	Extracellular (Potential).|LRR 2.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAGTGCAGCCGGGCGCCTTC	0.682000													37	65					0	0	0.834066	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	42368597	42368597	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr9:42368597C>T	uc004acd.2	+	1	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D	ANKRD20A3_uc010mmv.2_Silent_p.D61D	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	61											0						GAGACCTGGACGCCCTGGACA	0.721000													25	147					0	0	0.717897	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr9:43627428G>A	uc011lrb.1	-	4	1288	c.1259C>T	c.(1258-1260)CCC>CTC	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	420						integral to membrane					0						GTGCAGAGAGGGGAGGCCCCA	0.498000													10	170					0	0	0.411799	0	0
ARSD	414	broad.mit.edu	37	X	2836028	2836028	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:2836028G>A	uc004cqy.2	-	5	756	c.680C>T	c.(679-681)GCG>GTG	p.A227V	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A227V	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	227						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTGCTCTCGCGGAGACAGA	0.622000													9	23					0	0	0.307466	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237647	30237647	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:30237647C>T	uc004dbz.2	+	2	1053	c.950C>T	c.(949-951)GCC>GTC	p.A317V		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	317							protein binding			ovary(1)	1						GAAGAGAAAGCCGGAGTCTGA	0.498000													23	43					0	0	0.639603	0	0
MED14	9282	broad.mit.edu	37	X	40518771	40518771	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:40518771T>C	uc004dex.3	-	27	3913	c.3773A>G	c.(3772-3774)AAC>AGC	p.N1258S	MED14_uc004dey.1_Missense_Mutation_p.N160S	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1258					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						AAGCGTTTGGTTGGTTTTGGG	0.398000													39	61					0	0	0.796494	0	0
DDX26B	203522	broad.mit.edu	37	X	134715064	134715064	+	Missense_Mutation	SNP	G	A	A	rs143980255		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:134715064G>A	uc004eyw.3	+	16	2836	c.2473G>A	c.(2473-2475)GCA>ACA	p.A825T	DDX26B_uc004eyx.3_Missense_Mutation_p.A426T	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	825											0	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAAGCCGCAAGGTAGGT	0.383000													5	13					0	0	0.278610	0	0
AVPR2	554	broad.mit.edu	37	X	153172155	153172155	+	Silent	SNP	C	T	T			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:153172155C>T	uc004fjh.3	+	3	1160	c.1089C>T	c.(1087-1089)TCC>TCT	p.S363S	AVPR2_uc004fjg.3_Silent_p.S152S|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	363	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCCAGCTCCTCCCTGGCCA	0.642000													18	71					0	0	0.575678	0	0
HEXA	3073	broad.mit.edu	37	15	72638890	72638891	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:72638890_72638891delTA	uc002aun.3	-	11	1514_1515	c.1307_1308delTA	c.(1306-1308)ATAfs	p.I436fs	uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Frame_Shift_Del_p.I447fs|HEXA_uc002auo.3_Frame_Shift_Del_p.I299fs|HEXA_uc010bix.2_Frame_Shift_Del_p.I436fs|HEXA_uc010biy.2_Frame_Shift_Del_p.I299fs|HEXA_uc010uko.1_Frame_Shift_Del_p.I262fs|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	436					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						GGGGTTCCACTATGTAGAAATC	0.579													9	258	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29483060	29483064	+	Frame_Shift_Del	DEL	GGAAT	-	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29483060_29483064delGGAAT	uc002hgg.2	+	2	453_457	c.120_124delGGAAT	c.(118-126)AAGGAATGTfs	p.K40fs	NF1_uc002hge.1_Frame_Shift_Del_p.K40fs|NF1_uc002hgf.1_Frame_Shift_Del_p.K40fs|NF1_uc002hgh.2_Frame_Shift_Del_p.K40fs|NF1_uc010csn.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	40_42					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(5)|p.?(3)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCACAACAAGGAATGTCTAATCAA	0.332			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	32	---	---	---	---					
KIAA1267	284058	broad.mit.edu	37	17	44110778	44110780	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:44110778_44110780delCTC	uc002ikb.2	-	11	2798_2800	c.2713_2715delGAG	c.(2713-2715)GAGdel	p.E905del	KIAA1267_uc002ikc.2_In_Frame_Del_p.E905del|KIAA1267_uc002ikd.2_In_Frame_Del_p.E905del|KIAA1267_uc010dav.2_In_Frame_Del_p.E904del|KIAA1267_uc010wkb.1_In_Frame_Del_p.E236del|KIAA1267_uc010wkc.1_In_Frame_Del_p.E173del	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	905						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CCTCTTCATTCTCCTCATCAGGA	0.483													19	69	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220299748	220299748	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:220299748delC	uc010fwg.2	+	1	49	c.49delC	c.(49-51)CCCfs	p.P17fs	SPEG_uc002vlm.2_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	17					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACGAGGGCACCCCCCAGCCC	0.766													2	4	---	---	---	---					
PWWP2A	114825	broad.mit.edu	37	5	159546021	159546022	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:159546021_159546022insG	uc011ded.1	-	1	431_432	c.374_375insC	c.(373-375)CCGfs	p.P125fs	PWWP2A_uc003lxv.3_Frame_Shift_Ins_p.P125fs|PWWP2A_uc011dec.1_Frame_Shift_Ins_p.P125fs	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	125	Pro-rich.										0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGGGAGCCGGGGGCTGCTC	0.748													14	37	---	---	---	---					
Unknown	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	-	-			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr9:68413605_68413606delCT	uc004aex.2	+	1		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													2	4	---	---	---	---					
