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
PRAMEF17	391004	broad.mit.edu	37	1	13716908	13716908	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:13716908G>A	uc009vnz.1	+	2	425	c.395G>A	c.(394-396)AGG>AAG	p.R132K		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	PRAME family member 17	132											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGTAAGAGGCAGACAGTG	0.527000												
TBX15	6913	broad.mit.edu	37	1	119427517	119427517	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:119427517G>A	uc001ehl.1	-	8	1644	c.1329C>T	c.(1327-1329)AAC>AAT	p.N443N	TBX15_uc009whj.1_Silent_p.N267N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAAAGGCCCCGTTGGAAGGAG	0.522000												
SMG5	23381	broad.mit.edu	37	1	156222291	156222291	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:156222291G>A	uc001foc.3	-	19	2816	c.2667C>T	c.(2665-2667)ATC>ATT	p.I889I	SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	889	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527000												
CFHR3	10878	broad.mit.edu	37	1	196748348	196748348	+	Missense_Mutation	SNP	C	C	T	rs143890724		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:196748348C>T	uc001gtl.2	+	2	202	c.115C>T	c.(115-117)CGT>TGT	p.R39C	CFHR3_uc001gtk.2_Missense_Mutation_p.R39C|CFHR3_uc010poy.1_Missense_Mutation_p.R39C|CFHR1_uc001gtm.2_Missense_Mutation_p.R2C	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	39	Sushi 1.					extracellular space					0						TGAGAATATGCGTAGACCATA	0.323000												
IKBKE	9641	broad.mit.edu	37	1	206650166	206650166	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:206650166G>A	uc001hdz.1	+	7	1054	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	IKBKE_uc009xbu.1_Missense_Mutation_p.R229Q|IKBKE_uc009xbv.1_Missense_Mutation_p.R229Q|IKBKE_uc001hea.1_Missense_Mutation_p.R144Q	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	229	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					GGGCCACGGCGGAACAAGGAG	0.622000												
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:237729908C>T	uc001hyl.1	+	28	3376	c.3256C>T	c.(3256-3258)CGA>TGA	p.R1086*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1086	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAAGGTTCCGAATCTTCCG	0.542000												
RYR2	6262	broad.mit.edu	37	1	237794733	237794733	+	Silent	SNP	T	T	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:237794733T>A	uc001hyl.1	+	42	6567	c.6447T>A	c.(6445-6447)ATT>ATA	p.I2149I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2149	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGGATATTATGAATAACA	0.418000												
PRKCQ	5588	broad.mit.edu	37	10	6472771	6472771	+	Splice_Site	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:6472771C>A	uc001ijj.1	-	17	2040	c.1965_splice	c.e17+1	p.V655_splice	PRKCQ_uc009xim.1_Splice_Site_p.V592_splice|PRKCQ_uc001iji.1_Splice_Site_p.V688_splice|PRKCQ_uc009xin.1_Splice_Site_p.V619_splice|PRKCQ_uc010qax.1_Splice_Site_p.V530_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CGAGTCCTTACCACTTTCGGC	0.632000												
C10orf71	118461	broad.mit.edu	37	10	50530852	50530852	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:50530852C>A	uc010qgp.1	+	3	601	c.262C>A	c.(262-264)CAG>AAG	p.Q88K		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	88											0						GTTACCGTCACAGGGCACGGA	0.577000												
GRID1	2894	broad.mit.edu	37	10	87379661	87379661	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:87379661G>T	uc001kdl.1	-	14	2424	c.2323C>A	c.(2323-2325)CAG>AAG	p.Q775K	GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Missense_Mutation_p.Q346K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	775	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTGCCATGCTGCAGGGCAATC	0.592000										Multiple Myeloma(13;0.14)		
SEC31B	25956	broad.mit.edu	37	10	102265860	102265860	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:102265860C>A	uc001krc.1	-	9	1083	c.981G>T	c.(979-981)TGG>TGT	p.W327C	SEC31B_uc010qpo.1_Missense_Mutation_p.W326C|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.W330C|SEC31B_uc009xwn.1_Missense_Mutation_p.W327C|SEC31B_uc009xwo.1_Missense_Mutation_p.W327C|SEC31B_uc010qpq.1_Missense_Mutation_p.W170C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	327	WD 6.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAAACTGATCCAGCCGTTGA	0.532000												
TRIM34	53840	broad.mit.edu	37	11	5655984	5655984	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:5655984A>G	uc001mbh.2	+	4	800	c.643A>G	c.(643-645)AAG>GAG	p.K215E	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Missense_Mutation_p.K569E|TRIM34_uc009yeq.2_Translation_Start_Site|TRIM34_uc001mbi.2_Missense_Mutation_p.K215E|TRIM34_uc001mbj.2_Missense_Mutation_p.K215E	NM_001003827	NP_001003827	Q9BYJ4	TRI34_HUMAN	tripartite motif protein 34 isoform 1	215	Potential.				protein trimerization	cytoplasm	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGCTGGATAAGTTTGCAGA	0.448000												
DTX4	23220	broad.mit.edu	37	11	58949457	58949457	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:58949457G>A	uc001nns.2	+	2	714	c.457G>A	c.(457-459)GTC>ATC	p.V153I	DTX4_uc001nnr.2_Missense_Mutation_p.V47I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	153	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCAACGCCGCGTCCGCCGGCG	0.627000												
MEN1	4221	broad.mit.edu	37	11	64572604	64572604	+	Missense_Mutation	SNP	C	C	A	rs104894264		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:64572604C>A	uc001obj.2	-	9	1340	c.1267G>T	c.(1267-1269)GAC>TAC	p.D423Y	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.D423Y|MEN1_uc001obl.2_Missense_Mutation_p.D383Y|MEN1_uc001obm.2_Missense_Mutation_p.D418Y|MEN1_uc001obn.2_Missense_Mutation_p.D423Y|MEN1_uc001obo.2_Missense_Mutation_p.D423Y|MEN1_uc001obp.2_Missense_Mutation_p.D418Y|MEN1_uc001obq.2_Missense_Mutation_p.D423Y|MEN1_uc001obr.2_Missense_Mutation_p.D423Y	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	423			Missing (in MEN1).|D -> H (in MEN1).|D -> N (in MEN1).|Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.D418N(1)|p.L414_E425del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CAGATGCCGTCGTAGAATCGC	0.632000			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1			
MEN1	4221	broad.mit.edu	37	11	64575026	64575026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:64575026G>A	uc001obj.2	-	4	869	c.796C>T	c.(796-798)CAG>TAG	p.Q266*	MEN1_uc001obk.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q226*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q261*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q261*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q266*	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	266	Interaction with FANCD2.		Q -> QLQ (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.W265_L267del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						gccctcacctgctgcagctgc	0.259000			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1			
CARNS1	57571	broad.mit.edu	37	11	67191993	67191993	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:67191993G>A	uc009yrp.2	+	9	2857	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	CARNS1_uc001olc.3_Missense_Mutation_p.R941H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	802					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GCCCGTCTCCGCCTGCTGGGC	0.672000												
UCP3	7352	broad.mit.edu	37	11	73717372	73717372	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:73717372C>G	uc001our.2	-	3	534	c.179G>C	c.(178-180)GGC>GCC	p.G60A	UCP3_uc001ous.2_Missense_Mutation_p.G60A	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	60	Solcar 1.				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					GCCCAGCACGCCACGGTACTG	0.657000												
MYO7A	4647	broad.mit.edu	37	11	76893499	76893499	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:76893499C>T	uc001oyb.2	+	25	3411	c.3139C>T	c.(3139-3141)CGC>TGC	p.R1047C	MYO7A_uc010rsl.1_Missense_Mutation_p.R1047C|MYO7A_uc010rsm.1_Missense_Mutation_p.R1036C|MYO7A_uc001oyc.2_Missense_Mutation_p.R1047C|MYO7A_uc001oyd.2_Missense_Mutation_p.R387C|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R258C	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1047	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CACCATCCTCCGCTTCATGGG	0.582000												
DYNC2H1	79659	broad.mit.edu	37	11	103086494	103086494	+	Silent	SNP	A	A	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:103086494A>G	uc001pho.2	+	55	8883	c.8739A>G	c.(8737-8739)GAA>GAG	p.E2913E	DYNC2H1_uc001phn.1_Silent_p.E2913E|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2913	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGTGGATGAACTGAACAGAA	0.358000												
TAS2R43	259289	broad.mit.edu	37	12	11244154	11244154	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:11244154T>C	uc001qzq.1	-	1	759	c.675A>G	c.(673-675)ATA>ATG	p.I225M	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	225	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAAAGCTTTTATGTGGACCT	0.383000												
ACVR1B	91	broad.mit.edu	37	12	52387827	52387827	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:52387827G>A	uc001rzn.2	+	9	1493	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	ACVR1B_uc010snn.1_Missense_Mutation_p.R525H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	484	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCGCAGCCCGCCTGACGGCC	0.622000												
ACAD10	80724	broad.mit.edu	37	12	112193499	112193499	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:112193499A>C	uc001tsq.2	+	20	3189	c.2989A>C	c.(2989-2991)AAA>CAA	p.K997Q	ACAD10_uc009zvx.2_Missense_Mutation_p.K1028Q|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	997							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AGCCATGATTAAAATGGTCGC	0.542000												
IL31	386653	broad.mit.edu	37	12	122658467	122658467	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:122658467C>T	uc001ubv.2	-	2	116	c.89G>A	c.(88-90)CGT>CAT	p.R30H	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	30						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCGTAGTAAACGGACGGGCAA	0.517000												
ZMYM2	7750	broad.mit.edu	37	13	20641135	20641135	+	Silent	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr13:20641135C>T	uc001umr.2	+	21	3575	c.3277C>T	c.(3277-3279)CTG>TTG	p.L1093L	ZMYM2_uc001ums.2_Silent_p.L1093L|ZMYM2_uc001umt.2_Silent_p.L1093L|ZMYM2_uc001umv.2_Silent_p.L473L|ZMYM2_uc001umw.2_Silent_p.L546L	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGAAGATCTTCTGGTATTAGA	0.313000												
DNAJC3	5611	broad.mit.edu	37	13	96375503	96375503	+	Silent	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr13:96375503C>T	uc001vmq.2	+	3	309	c.201C>T	c.(199-201)GAC>GAT	p.D67D	DNAJC3_uc001vmp.2_Silent_p.D67D|DNAJC3_uc001vmr.2_Silent_p.D67D	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	67	TPR 1.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CAGATGGTGACCCTGATAACT	0.303000												
APBA2	321	broad.mit.edu	37	15	29406154	29406154	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:29406154G>A	uc001zck.2	+	13	2320	c.2113G>A	c.(2113-2115)GGG>AGG	p.G705R	APBA2_uc010uat.1_Missense_Mutation_p.G693R|APBA2_uc001zcl.2_Missense_Mutation_p.G693R	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	705	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGATCAACGGGCAGAGCGT	0.607000												
WDR76	79968	broad.mit.edu	37	15	44120487	44120487	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:44120487G>T	uc001zti.1	+	2	408	c.385G>T	c.(385-387)GCA>TCA	p.A129S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	129											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CAAGAGAACGGCAGATGCGAT	0.428000												
UNC13C	440279	broad.mit.edu	37	15	54630687	54630687	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:54630687G>A	uc002ack.2	+	15	4713	c.4713G>A	c.(4711-4713)CCG>CCA	p.P1571P	UNC13C_uc002acl.2_Silent_p.P401P	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1571					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAACAGACCCGGTAAGAAAAT	0.363000												
FAM154B	283726	broad.mit.edu	37	15	82575372	82575372	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:82575372G>A	uc002bgv.2	+	3	1235	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	FAM154B_uc010unr.1_Missense_Mutation_p.R374H|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	389										skin(2)	2						AAATTCTTCCGCAAGATTATT	0.388000												
TEKT5	146279	broad.mit.edu	37	16	10729625	10729625	+	Missense_Mutation	SNP	A	A	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr16:10729625A>T	uc002czz.1	-	6	1309	c.1237T>A	c.(1237-1239)TTG>ATG	p.L413M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	413					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						ACTTACTTCAACTGCGGGATG	0.627000												
CYLD	1540	broad.mit.edu	37	16	50785785	50785785	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr16:50785785G>A	uc002egp.1	+	5	1190	c.775G>A	c.(775-777)GAA>AAA	p.E259K	CYLD_uc002egn.1_Missense_Mutation_p.E259K|CYLD_uc002ego.2_Missense_Mutation_p.E259K|CYLD_uc010cbs.1_Missense_Mutation_p.E259K|CYLD_uc002egq.1_Missense_Mutation_p.E259K|CYLD_uc002egr.1_Missense_Mutation_p.E259K|CYLD_uc002egs.1_Missense_Mutation_p.E259K	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	259	CAP-GLY 2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GCCAGGAAAAGAAAGCTTAGG	0.284000			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
PLXDC1	57125	broad.mit.edu	37	17	37264391	37264391	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:37264391C>T	uc002hrg.2	-	5	789	c.577G>A	c.(577-579)GTT>ATT	p.V193I	uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	193	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TCAAAGTAAACAACTGTGGAG	0.532000												
TEX14	56155	broad.mit.edu	37	17	56665028	56665028	+	Splice_Site	SNP	C	C	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:56665028C>G	uc010dcz.1	-	17	2839	c.2721_splice	c.e17-1	p.R907_splice	TEX14_uc002iwr.1_Splice_Site_p.R901_splice|TEX14_uc002iws.1_Splice_Site_p.R901_splice|TEX14_uc010dda.1_Splice_Site_p.R681_splice	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACTCATCCTGAATTGCAC	0.438000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FASN	2194	broad.mit.edu	37	17	80046085	80046085	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:80046085T>C	uc002kdu.2	-	17	2809	c.2692A>G	c.(2692-2694)ACG>GCG	p.T898A	FASN_uc002kdw.1_Missense_Mutation_p.T114A	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	898					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGGGCCAGCGTCTTCCACACT	0.652000												
LAMA1	284217	broad.mit.edu	37	18	6942154	6942154	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr18:6942154A>G	uc002knm.2	-	63	9246	c.9152T>C	c.(9151-9153)GTG>GCG	p.V3051A	LAMA1_uc002knk.2_Missense_Mutation_p.V381A|LAMA1_uc002knl.2_Missense_Mutation_p.V504A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2527A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3051	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGGACTGCACCTGCGGGCT	0.532000												
NETO1	81832	broad.mit.edu	37	18	70417340	70417340	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr18:70417340T>C	uc002lkw.2	-	9	1782	c.1498A>G	c.(1498-1500)ACC>GCC	p.T500A	NETO1_uc002lkx.1_Missense_Mutation_p.T499A|NETO1_uc002lky.1_Missense_Mutation_p.T500A	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	500	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGACTGGTGGTCGGCACCTCT	0.453000												
COL5A3	50509	broad.mit.edu	37	19	10077052	10077052	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:10077052C>A	uc002mmq.1	-	64	4806	c.4720G>T	c.(4720-4722)GTT>TTT	p.V1574F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1574	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTGCAAAAAACCCTGAACGAG	0.607000												
ILVBL	10994	broad.mit.edu	37	19	15233935	15233935	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:15233935G>A	uc002nam.2	-	4	578	c.457C>T	c.(457-459)CTG>TTG	p.L153L	ILVBL_uc010dzw.2_Silent_p.L46L|ILVBL_uc010dzx.1_Silent_p.L153L	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACCTGCAGCAGAGTGCTGGCA	0.627000												
C5AR1	728	broad.mit.edu	37	19	47823124	47823124	+	Silent	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:47823124T>C	uc002pgj.1	+	2	139	c.90T>C	c.(88-90)TCT>TCC	p.S30S		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	30	Extracellular (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ATAAAACTTCTAACACGCTGC	0.532000												
AP2A1	160	broad.mit.edu	37	19	50302934	50302934	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:50302934G>T	uc002ppn.2	+	10	1394	c.1183G>T	c.(1183-1185)GCC>TCC	p.A395S	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.A395S|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	395					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632000												
FPR2	2358	broad.mit.edu	37	19	52272624	52272624	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:52272624G>A	uc002pxr.2	+	2	758	c.713G>A	c.(712-714)CGT>CAT	p.R238H	FPR2_uc002pxs.3_Missense_Mutation_p.R238H|FPR2_uc010epf.2_Missense_Mutation_p.R238H	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	238	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						AAATCCAGCCGTCCCTTACGG	0.507000												
PXDN	7837	broad.mit.edu	37	2	1670198	1670198	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:1670198G>A	uc002qxa.2	-	10	1143	c.1079C>T	c.(1078-1080)ACG>ATG	p.T360M	PXDN_uc002qxb.1_Missense_Mutation_p.T360M|PXDN_uc002qxc.1_Missense_Mutation_p.T177M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	360	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCACTCCAGCGTGACGCTCTC	0.572000												
MSH6	2956	broad.mit.edu	37	2	48025978	48025978	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:48025978G>A	uc002rwd.3	+	4	1008	c.856G>A	c.(856-858)GAG>AAG	p.E286K	MSH6_uc002rwc.2_Missense_Mutation_p.E286K|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.E156K|MSH6_uc010yoj.1_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	286					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGGGATAGTGAGAGTGAAGG	0.468000			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
C2orf42	54980	broad.mit.edu	37	2	70392720	70392720	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:70392720C>T	uc002sgh.2	-	7	1520	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	398											0						TGTTGCAGGGCATCAAAAAAT	0.418000												
SLC35F5	80255	broad.mit.edu	37	2	114513058	114513058	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:114513058T>C	uc002tku.1	-	2	528	c.104A>G	c.(103-105)GAG>GGG	p.E35G	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.E29G|SLC35F5_uc002tkw.2_Missense_Mutation_p.E35G	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	35					transport	integral to membrane					0						TCTGAGATCCTCAAGAGCAAT	0.393000												
LRP2	4036	broad.mit.edu	37	2	170099465	170099465	+	Splice_Site	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:170099465C>T	uc002ues.2	-	24	3880	c.3667_splice	c.e24+1	p.P1223_splice	LRP2_uc010zdf.1_Splice_Site_p.P1086_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTTACTTACGACAGCCTGC	0.408000												
TTN	7273	broad.mit.edu	37	2	179549695	179549695	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:179549695A>G	uc010zfg.1	-	127	28984	c.28760T>C	c.(28759-28761)ATT>ACT	p.I9587T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I6248T|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10514							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTCTGGCACAATTTTCTTAGG	0.368000												
COL5A2	1290	broad.mit.edu	37	2	189933586	189933586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:189933586G>A	uc002uqk.2	-	19	1458	c.1183C>T	c.(1183-1185)CGA>TGA	p.R395*	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	395					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCAGGGCCTCGCGCCCCTGTA	0.493000												
MYO1B	4430	broad.mit.edu	37	2	192194740	192194740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:192194740G>T	uc010fsg.2	+	4	586	c.331G>T	c.(331-333)GGA>TGA	p.G111*	MYO1B_uc002usq.2_Nonsense_Mutation_p.G111*|MYO1B_uc002usr.2_Nonsense_Mutation_p.G111*|MYO1B_uc002uss.1_Nonsense_Mutation_p.G111*	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	111	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGGGGAAAGTGGAGCAGGAAA	0.468000												
GLB1L	79411	broad.mit.edu	37	2	220104395	220104395	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:220104395C>T	uc002vkm.2	-	9	1029	c.790G>A	c.(790-792)GAG>AAG	p.E264K	GLB1L_uc002vkk.2_Missense_Mutation_p.E21K|GLB1L_uc010zkx.1_Missense_Mutation_p.E174K|GLB1L_uc002vkn.2_Missense_Mutation_p.E264K	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	264		Nucleophile (Potential).			carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTAGTACTCAGAGTTTACC	0.512000												
KIAA1486	57624	broad.mit.edu	37	2	226446838	226446838	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:226446838G>A	uc002voe.2	+	4	880	c.705G>A	c.(703-705)GCG>GCA	p.A235A	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A5A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	235										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GCAGCCCCGCGGGAGACCCCG	0.602000												
PRR21	643905	broad.mit.edu	37	2	240981279	240981279	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:240981279T>C	uc010zod.1	-	1	1121	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	374										ovary(1)|skin(1)	2						AAGACAGGTGTTGAAGGTGGC	0.458000												
FLRT3	23767	broad.mit.edu	37	20	14306395	14306395	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr20:14306395G>A	uc002wov.1	-	3	2225	c.1758C>T	c.(1756-1758)ATC>ATT	p.I586I	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.I586I	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	586	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGATTTCCAGGATAGAGTTGT	0.418000												
C20orf195	79025	broad.mit.edu	37	20	62187465	62187465	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr20:62187465G>A	uc002yfj.2	+	2	541	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	C20orf195_uc002yfk.2_Missense_Mutation_p.R150Q	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	150											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGACCCACGGCCCTTCCTG	0.682000												
C3orf45	132228	broad.mit.edu	37	3	50324175	50324175	+	Silent	SNP	G	G	A	rs146794860		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr3:50324175G>A	uc003cyz.2	+	3	270	c.243G>A	c.(241-243)CCG>CCA	p.P81P		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	81						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTTTGCCGCCGTCACTGTGTG	0.637000												
JAKMIP1	152789	broad.mit.edu	37	4	6107592	6107592	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:6107592C>T	uc003giu.3	-	3	508	c.232G>A	c.(232-234)GAG>AAG	p.E78K	JAKMIP1_uc010idb.1_Missense_Mutation_p.E78K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E78K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.E78K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E78K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	78	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GTCTTCTCCTCATGCAGCTTG	0.677000												
LIMCH1	22998	broad.mit.edu	37	4	41615625	41615625	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:41615625C>T	uc003gvu.3	+	7	683	c.629C>T	c.(628-630)TCT>TTT	p.S210F	LIMCH1_uc003gvt.1_Missense_Mutation_p.S51F|LIMCH1_uc003gvv.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvw.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvx.3_Missense_Mutation_p.S210F|LIMCH1_uc003gwe.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvy.3_Missense_Mutation_p.S51F|LIMCH1_uc003gwa.3_Missense_Mutation_p.S51F|LIMCH1_uc003gvz.3_Missense_Mutation_p.S51F|LIMCH1_uc011byu.1_Missense_Mutation_p.S56F|LIMCH1_uc003gwc.3_Missense_Mutation_p.S56F|LIMCH1_uc003gwd.3_Missense_Mutation_p.S56F|LIMCH1_uc011byv.1_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.S58F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	210					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TCCTTTGGCTCTCGCTCTCGG	0.527000												
PKD2	5311	broad.mit.edu	37	4	88995977	88995977	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:88995977G>A	uc003hre.2	+	14	2602	c.2536G>A	c.(2536-2538)GTG>ATG	p.V846M	PKD2_uc011cdf.1_Missense_Mutation_p.V264M|PKD2_uc011cdg.1_Missense_Mutation_p.V172M|PKD2_uc011cdh.1_Missense_Mutation_p.V69M	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	846	Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).			V->E: Loss of protein solubility.		basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGTGAGACGAGTGGACCGGAT	0.498000												
PDHA2	5161	broad.mit.edu	37	4	96761778	96761778	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:96761778T>A	uc003htr.3	+	1	540	c.477T>A	c.(475-477)TAT>TAA	p.Y159*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	159					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGAACTTCTATGGGGGCAATG	0.493000												
ANK2	287	broad.mit.edu	37	4	114257924	114257924	+	Silent	SNP	A	A	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:114257924A>G	uc003ibe.3	+	31	3883	c.3783A>G	c.(3781-3783)CTA>CTG	p.L1261L	ANK2_uc003ibd.3_Silent_p.L1252L|ANK2_uc003ibf.3_Silent_p.L1261L|ANK2_uc011cgc.1_Silent_p.L437L|ANK2_uc003ibg.3_Silent_p.L256L|ANK2_uc011cgb.1_Silent_p.L1276L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1228					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGATTACTATGCAGCATAA	0.373000												
TMEM184C	55751	broad.mit.edu	37	4	148546061	148546061	+	Missense_Mutation	SNP	T	T	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:148546061T>A	uc003ila.3	+	4	967	c.398T>A	c.(397-399)CTA>CAA	p.L133Q		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	133						integral to membrane					0						ACCAATTATCTAACTAACCGG	0.388000												
LRBA	987	broad.mit.edu	37	4	151388910	151388910	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:151388910T>C	uc010ipj.2	-	45	7202	c.6728A>G	c.(6727-6729)TAT>TGT	p.Y2243C	LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Missense_Mutation_p.Y133C|LRBA_uc003ilt.3_Missense_Mutation_p.Y891C|LRBA_uc003ilu.3_Missense_Mutation_p.Y2232C	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2243	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AAACACTGGATACTGATTTAA	0.323000												
HIST1H2AD	3013	broad.mit.edu	37	6	26199398	26199398	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:26199398T>G	uc003ngw.2	-	1	74	c.74A>C	c.(73-75)CAG>CCG	p.Q25P	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	25					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CACAGGGAACTGGAGTCCGGC	0.617000												
VPS52	6293	broad.mit.edu	37	6	33232167	33232167	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:33232167T>C	uc003odm.1	-	14	1718	c.1508A>G	c.(1507-1509)GAT>GGT	p.D503G	VPS52_uc003odn.1_Missense_Mutation_p.D314G	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	503					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						GGGCCGAGTATCCAACCCCCC	0.557000												
C6orf108	10591	broad.mit.edu	37	6	43197129	43197129	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:43197129G>A	uc003ouo.2	-	1	83	c.66C>T	c.(64-66)GCC>GCT	p.A22A	C6orf108_uc003oup.2_Silent_p.A22A	NM_006443	NP_006434	O43598	RCL_HUMAN	putative c-Myc-responsive isoform 1	22					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			AGAAGTACAGGGCCGGGCGGC	0.736000												
RSPH9	221421	broad.mit.edu	37	6	43612845	43612845	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:43612845G>A	uc003ovw.1	+	1	36	c.10G>A	c.(10-12)GAC>AAC	p.D4N	RSPH9_uc003ovx.1_Missense_Mutation_p.D4N	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	4					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						GATGGACGCCGACAGCCTCCT	0.667000									Kartagener_syndrome			
PKHD1	5314	broad.mit.edu	37	6	51882288	51882288	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:51882288G>A	uc003pah.1	-	34	5796	c.5520C>T	c.(5518-5520)TGC>TGT	p.C1840C	PKHD1_uc003pai.2_Silent_p.C1840C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1840	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AACTTTCCTCGCAAATGTAGA	0.493000												
AHI1	54806	broad.mit.edu	37	6	135784438	135784438	+	Silent	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:135784438C>T	uc003qgi.2	-	8	1140	c.756G>A	c.(754-756)TTG>TTA	p.L252L	AHI1_uc003qgh.2_Silent_p.L252L|AHI1_uc003qgj.2_Silent_p.L252L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.L252L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	252						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CAGAGATGGTCAATGTACTAC	0.323000												
STYXL1	51657	broad.mit.edu	37	7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	rs147059565		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:75634686C>T	uc003uej.3	-	6	663	c.490G>A	c.(490-492)GTG>ATG	p.V164M	STYXL1_uc003uef.2_Translation_Start_Site|STYXL1_uc011kgf.1_Missense_Mutation_p.V26M|STYXL1_uc011kgg.1_Missense_Mutation_p.V16M|STYXL1_uc003ueh.2_Missense_Mutation_p.V26M|STYXL1_uc003uek.3_Missense_Mutation_p.V68M|STYXL1_uc003uel.2_Missense_Mutation_p.V164M|STYXL1_uc003uem.2_Missense_Mutation_p.V164M|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V164M|STYXL1_uc003uen.1_Missense_Mutation_p.V164M	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	164	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TTCCCTGGCACGATTTCAATG	0.478000												
MUC17	140453	broad.mit.edu	37	7	100684763	100684763	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:100684763G>A	uc003uxp.1	+	3	10119	c.10066G>A	c.(10066-10068)GAG>AAG	p.E3356K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3356	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.483000												
RELN	5649	broad.mit.edu	37	7	103290823	103290823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:103290823G>A	uc003vca.2	-	16	2060	c.1900C>T	c.(1900-1902)CGA>TGA	p.R634*	RELN_uc010liz.2_Nonsense_Mutation_p.R634*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	634					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGTTATTCGGTTCCACCTG	0.413000												
CSMD1	64478	broad.mit.edu	37	8	3263657	3263657	+	Missense_Mutation	SNP	A	A	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:3263657A>T	uc011kwk.1	-	15	2551	c.2161T>A	c.(2161-2163)TCT>ACT	p.S721T	CSMD1_uc011kwj.1_Missense_Mutation_p.S113T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	721	Sushi 4.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGGAAAGAAACCGAGCTC	0.512000												
RAB11FIP1	80223	broad.mit.edu	37	8	37729256	37729256	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:37729256C>T	uc003xkm.1	-	4	3108	c.3064G>A	c.(3064-3066)GTA>ATA	p.V1022I	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.V351I|RAB11FIP1_uc003xko.1_Missense_Mutation_p.V351I|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	1022					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCCCCCAGTACCAACCTATCT	0.562000												
DCAF4L2	138009	broad.mit.edu	37	8	88885231	88885231	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:88885231G>A	uc003ydz.2	-	1	1066	c.969C>T	c.(967-969)AAC>AAT	p.N323N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	323	WD 2.									ovary(1)	1						CTTCTTCTTCGTTCACATGCA	0.547000												
DPYS	1807	broad.mit.edu	37	8	105405080	105405080	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:105405080C>A	uc003yly.3	-	8	1504	c.1375G>T	c.(1375-1377)GAT>TAT	p.D459Y	DPYS_uc010mcf.1_Missense_Mutation_p.D29Y	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	459					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACTTCCCATCTCCTGCCGTG	0.483000												
IARS	3376	broad.mit.edu	37	9	95009740	95009740	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:95009740G>A	uc004art.1	-	26	2967	c.2710C>T	c.(2710-2712)CGT>TGT	p.R904C	IARS_uc004ars.1_Missense_Mutation_p.R749C|IARS_uc004aru.3_Missense_Mutation_p.R904C|IARS_uc010mqr.2_Missense_Mutation_p.R794C|IARS_uc010mqt.2_Missense_Mutation_p.R127C	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	904					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CCCTTCAGACGCTTCCCCAGG	0.483000												
ACTL7A	10881	broad.mit.edu	37	9	111625637	111625637	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:111625637G>A	uc004bdj.1	+	1	1035	c.1035G>A	c.(1033-1035)AAG>AAA	p.K345K		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	345						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GCCTTAACAAGTGTGACATCG	0.572000												
REXO4	57109	broad.mit.edu	37	9	136282791	136282791	+	Silent	SNP	T	T	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:136282791T>C	uc004cdm.2	-	1	374	c.174A>G	c.(172-174)CGA>CGG	p.R58R	ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_5'UTR|REXO4_uc011mdf.1_5'UTR|REXO4_uc004cdn.2_5'UTR|REXO4_uc004cdo.2_Silent_p.R58R	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	58						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CCTTTGGAGGTCGCACCACAG	0.572000												
PHPT1	29085	broad.mit.edu	37	9	139744466	139744466	+	Silent	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:139744466G>A	uc004cjp.2	+	3	784	c.162G>A	c.(160-162)GCG>GCA	p.A54A	PHPT1_uc011mei.1_Silent_p.A54A|PHPT1_uc004cjq.3_Silent_p.A54A|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1 isoform 3	54						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCATCCCAGCGGACATCTACG	0.642000												
MCF2	4168	broad.mit.edu	37	X	138724648	138724648	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:138724648C>A	uc004fau.2	-	1	324	c.30G>T	c.(28-30)AAG>AAT	p.K10N	MCF2_uc004fav.2_Missense_Mutation_p.K10N|MCF2_uc011mwl.1_Missense_Mutation_p.K10N|MCF2_uc010nsh.1_Missense_Mutation_p.K10N|MCF2_uc011mwm.1_Missense_Mutation_p.K10N|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Intron|MCF2_uc011mwo.1_Intron	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	10	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TGAACCTCATCTTGCCTCTCC	0.493000												
SLITRK2	84631	broad.mit.edu	37	X	144906417	144906417	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:144906417A>C	uc004fcd.2	+	5	3464	c.2474A>C	c.(2473-2475)AAG>ACG	p.K825T	SLITRK2_uc010nsp.2_Missense_Mutation_p.K825T|SLITRK2_uc010nso.2_Missense_Mutation_p.K825T|SLITRK2_uc011mwq.1_Missense_Mutation_p.K825T|SLITRK2_uc011mwr.1_Missense_Mutation_p.K825T|SLITRK2_uc011mws.1_Missense_Mutation_p.K825T|SLITRK2_uc004fcg.2_Missense_Mutation_p.K825T|SLITRK2_uc011mwt.1_Missense_Mutation_p.K825T|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	825	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAAGCTAAGCCGCAATCA	0.448000												
ATP2B3	492	broad.mit.edu	37	X	152807375	152807375	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:152807375G>A	uc004fht.1	+	3	781	c.655G>A	c.(655-657)GTC>ATC	p.V219I	ATP2B3_uc004fhs.1_Missense_Mutation_p.V219I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	219	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCCCAGGTCAAGTACGG	0.637000												
HDC	3067	broad.mit.edu	37	15	50534549	50534550	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:50534549_50534550insT	uc001zxz.2	-	12	2002_2003	c.1896_1897insA	c.(1894-1899)AAACTCfs	p.K632fs	HDC_uc001zxy.2_Frame_Shift_Ins_p.K375fs|HDC_uc010uff.1_Frame_Shift_Ins_p.K599fs	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	632_633					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AATTTGATGAGTTTTTTGAAGG	0.490												
EFR3A	23167	broad.mit.edu	37	8	133014029	133014036	+	Frame_Shift_Del	DEL	TTTTGAAG	TTTTGAAG	-			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:133014028_133014035CTTTTGAAG>C	uc003yte.3	+	19	2384_2391	c.2180_2187CTTTTGAAG>C	c.(2179-2187)acttttgaafs	p.T727fs		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	727						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GAAGAAATCACTTTTGAAGCATTGAAGA	0.322												
CNTN5	53942	broad.mit.edu	37	11	99827607	99827607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:99827606_99827606TC>T	uc001pga.3	+	7	1246	c.742_742TC>T	c.(742-744)tccfs	p.S248fs	CNTN5_uc009ywv.2_Frame_Shift_Del_p.S248fs|CNTN5_uc001pfz.3_Frame_Shift_Del_p.S248fs|CNTN5_uc021qpb.1_Frame_Shift_Del_p.S248fs|CNTN5_uc021qpc.1_Frame_Shift_Del_p.S174fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	248	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCGGTTCATCTCCCAGGAGAC	0.423												
HDC	3067	broad.mit.edu	37	15	50534550	50534551	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:50534549_50534550G>GT	uc001zxz.3	-	11	2238_2239	c.1896_1897C>AC	c.(1894-1899)aaactcfs	p.K632fs	HDC_uc001zxy.3_Frame_Shift_Ins_p.K375fs|HDC_uc010uff.2_Frame_Shift_Ins_p.K599fs	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	632					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AATTTGATGAGTTTTTTGAAGG	0.510