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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMEM127	55654	broad.mit.edu	37	2	96920609	96920609	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:96920609T>C	uc002svq.3	-	2	647	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TMEM127_uc002svr.3_Missense_Mutation_p.K124R	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	124					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						ACGAGTGATCTTCAGAGCAGG	0.582000														151			4		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65889530	65889530	+	Silent	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:65889530C>T	uc002jgf.3	+	5	2161	c.2100C>T	c.(2098-2100)acC>acT	p.T700T	BPTF_uc002jge.3_Silent_p.T826T|BPTF_uc010wqm.1_Silent_p.T763T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	826	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTTGAGCACCAAAAAGGAAG	0.343000														175			7		0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34727798	34727798	+	Silent	SNP	T	C	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:34727798T>C	uc002yrn.3	+	10	1764	c.1617T>C	c.(1615-1617)tcT>tcC	p.S539S	IFNAR1_uc011adv.2_Silent_p.S470S	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	539					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GAAATTATTCTAATGAAGATG	0.333000														158			4		0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23399207	23399207	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:23399207G>A	uc001iro.3	+	2	367	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	Homo sapiens methionine sulfoxide reductase B2 (MSRB2), mRNA.	86					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAAGGAAGCAGGAATGTATCA	0.433000														30			4		0	0	1	0	0
FAM86B2	653333	broad.mit.edu	37	8	12287958	12287958	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12287958G>T	uc003wvt.4	-	3	243	c.243C>A	c.(241-243)caC>caA	p.H81Q	LOC100506990_uc011kxp.1_Intron|FAM86B2_uc003wvq.4_Non-coding_Transcript|FAM86B2_uc003wvr.4_Intron|FAM86B2_uc010lsn.3_Non-coding_Transcript|FAM86B2_uc003wvu.4_Intron|FAM86B2_uc010lso.3_Intron|FAM86B2_uc011kxt.2_Intron|FAM86B2_uc010lsl.3_Non-coding_Transcript|FAM86B2_uc011kxu.2_Intron	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN	Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA.	81								p.C81S(2)		endometrium(1)|kidney(2)	3						GGACAGCCTCGTGCTGGGGGC	0.537000														83			40		2.74695e-27	3.01279e-27	1	1	0
FBXO41	150726	broad.mit.edu	37	2	73493739	73493739	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:73493739T>G	uc021vjh.1	-	1	1067	c.977A>C	c.(976-978)cAg>cCg	p.Q326P		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	326						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATGAACTGCTGCAGCCGCAG	0.677000														2			9		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115802	220115802	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220115802C>T	uc002vkt.1	-	3	677	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA4A_uc010zkz.1_Missense_Mutation_p.E192K|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	207					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGATTGCTTCGTTGTCCACC	0.562000														66			4		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51787229	51787229	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:51787229A>G	uc010ufy.2	-	18	5000	c.4775T>C	c.(4774-4776)cTt>cCt	p.L1592P	DMXL2_uc002abf.3_Missense_Mutation_p.L1592P|DMXL2_uc010bfa.3_Missense_Mutation_p.L956P	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1592						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCTTGATGAAGTAGCTGCAC	0.403000														109			5		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102260	102260	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chrGL000209.1:102260G>A	uc021vdb.1	+	2	206	c.195G>A	c.(193-195)acG>acA	p.T65T	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Silent_p.T65T	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	65	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GAGAGGGGACGTTTAACCACA	0.532000														66			4		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:7578396G>T	uc002gim.2	-	4	728	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.3_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.2_Missense_Mutation_p.H139Q	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177L(17)|p.P177_C182delPHHERC(16)|p.P177R(16)|p.H178fs*69(15)|p.H178Q(10)|p.P177P(10)|p.H179Y(8)|p.H178Y(8)|p.0?(8)|p.P177S(8)|p.H178fs*3(7)|p.C176_R181delCPHHER(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178D(5)|p.P177fs*3(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.R174fs*24(3)|p.P177H(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.R175_H178>X(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.H178del(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.P177_C182del(1)|p.P177fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		AGCGCTCATGGTGGGGGCAGC	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				9			44		4.10826e-27	4.36503e-27	1	1	0
ZSWIM6	57688	broad.mit.edu	37	5	60822118	60822118	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:60822118T>C	uc003jsr.3	+	6	1732	c.1732T>C	c.(1732-1734)Tct>Cct	p.S578P		NM_020928	NP_065979	Q9HCJ5	ZSWM6_HUMAN	Homo sapiens zinc finger, SWIM-type containing 6 (ZSWIM6), mRNA.	578							zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CGCATTACGTTCTCATGGGTA	0.418000														100			4		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161986	29161986	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:29161986T>C	uc002hfs.1	+	1	1230	c.887T>C	c.(886-888)gTc>gCc	p.V296A	ATAD5_uc002hft.1_Missense_Mutation_p.V193A	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	296					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAAACTGTCGACGAAATA	0.363000														81			4		0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40775606	40775606	+	Splice_Site	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:40775606C>T	uc003jmb.3	-	3	276	c.270_splice	c.e3-1	p.L90_splice	PRKAA1_uc003jmc.3_Splice_Site_p.L90_splice	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	90	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GACCTGGTACCTGGTGAGAGA	0.353000														206			6		0	0	1	0	0
CEP19	84984	broad.mit.edu	37	3	196434505	196434505	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:196434505C>A	uc011btw.2	-	2	803	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	Homo sapiens centrosomal protein 19kDa (CEP19), mRNA.	137						centriole|spindle pole				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCATAAACAAAATTTGGA	0.408000														75			46		5.57489e-27	5.74383e-27	1	1	0
MTA2	9219	broad.mit.edu	37	11	62367694	62367694	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:62367694A>G	uc001ntq.2	-	2	524	c.134T>C	c.(133-135)cTt>cCt	p.L45P	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	45	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						gcgccggaaaagacagacaac	0.443000														119			4		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242283310	242283310	+	Silent	SNP	C	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:242283310C>A	uc002wbh.3	+	12	1332	c.870C>A	c.(868-870)ctC>ctA	p.L290L	SEPT2_uc002wbc.3_Silent_p.L280L|SEPT2_uc002wbd.3_Silent_p.L280L|SEPT2_uc002wbf.3_Silent_p.L280L|SEPT2_uc002wbg.3_Silent_p.L280L|SEPT2_uc010zop.2_Silent_p.L315L	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	280					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAACCATGCTCATGTAAGACA	0.507000														4			29		4.4194e-11	4.4194e-11	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16326646	16326646	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr6:16326646G>A	uc003nbt.3	-	7	2867	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	ATXN1_uc010jpi.3_Silent_p.A632A|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	632	AXH.|Interaction with USP7.|RNA-binding.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCCCCGACGGCGAACTGTA	0.577000														35			5		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13340907	13340907	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:13340907G>A	uc002mwy.3	-	35	5753	c.5517C>T	c.(5515-5517)gaC>gaT	p.D1839D	CACNA1A_uc002mwx.3_Silent_p.D545D|CACNA1A_uc010dzc.2_Silent_p.D1365D|CACNA1A_uc010xnd.2_Silent_p.D1842D|CACNA1A_uc021ups.1_Silent_p.D1839D|CACNA1A_uc010xne.2_Silent_p.D1842D|CACNA1A_uc010dze.2_Silent_p.D1839D|CACNA1A_uc021upt.1_Silent_p.D1840D|CACNA1A_uc002mwv.3_Silent_p.D356D	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1840					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGCTGCGGGGTCATACTCGG	0.597000														30			30		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105269023	105269023	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:105269023C>T	uc003dvx.3	+	11	2123	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ALCAM_uc003dvw.2_Missense_Mutation_p.S476F|ALCAM_uc003dvy.3_Missense_Mutation_p.S476F|ALCAM_uc010hpp.3_Missense_Mutation_p.S198F|ALCAM_uc003dvz.3_Missense_Mutation_p.S110F	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	476	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTATCATTTCCCCTGAAGAG	0.343000														137			8		0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42456379	42456379	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr22:42456379G>A	uc003bbw.4	-	8	1685	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	380					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTTCATCTCGGAGGCCACTGA	0.567000														42			15		0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79945302	79945302	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:79945302G>A	uc003kgy.1	-	2	640	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	DHFR_uc011ctl.2_Silent_p.L208L|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	50	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	ATAATCACCAGATTCTGTTTA	0.323000														143			5		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53139767	53139767	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:53139767G>A	uc003dgj.3	-	8	933	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	293					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTATTGGCTGGAAAATTAATC	0.358000														119			5		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624307	32624307	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:32624307G>A	uc002yow.1	-	5	1634	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	TIAM1_uc011adk.1_Missense_Mutation_p.R388W|TIAM1_uc011adl.1_Missense_Mutation_p.R388W|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	388					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGCTCCCGCCGGAAGTTCTCG	0.687000														37			3		0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38782514	38782514	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:38782514G>A	uc002ohr.2	+	6	1062	c.627G>A	c.(625-627)ttG>ttA	p.L209L	SPINT2_uc002ohs.2_Silent_p.L152L	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	209					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGATGGTGTTGATCCTCTTCC	0.647000														53			40		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507059	195507059	+	Missense_Mutation	SNP	T	C	C	rs74208457		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195507059T>C	uc021xjp.1	-	1	11548	c.11392A>G	c.(11392-11394)Act>Gct	p.T3798A	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	581					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T3798A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602000														60			5		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	840180	840180	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr16:840180T>C	uc002ckf.4	+	3	757	c.694T>C	c.(694-696)Tct>Cct	p.S232P	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S204P|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S204P|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	204					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCCACAGGGCTCTCTCCTCCA	0.657000														65			4		0	0	1	0	0
ELFN1	392617	broad.mit.edu	37	7	1785380	1785380	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:1785380C>T	uc010ksg.2	+	1	1532	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F		NM_001128636	NP_001122108			Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 1 (ELFN1), mRNA.											endometrium(1)	1						TGCGTGGTGTCCACCAGCGCC	0.672000														20			13		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99163146	99163146	+	Silent	SNP	G	A	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:99163146G>A	uc002syy.3	+	12	1545	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	INPP4A_uc010yvj.1_Silent_p.E384E|INPP4A_uc010yvk.2_Silent_p.E384E|INPP4A_uc002syx.3_Silent_p.E384E|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	384					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AATTTGAAGAGACCAAGAAAC	0.438000														214			6		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169839	110169839	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:110169839A>G	uc009wfh.1	+	7	1465	c.923A>G	c.(922-924)gAg>gGg	p.E308G	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.E227G|AMPD2_uc001dyc.1_Missense_Mutation_p.E308G|AMPD2_uc010ovr.1_Missense_Mutation_p.E233G|AMPD2_uc010ovs.1_Missense_Mutation_p.E190G|AMPD2_uc001dyd.1_Missense_Mutation_p.E189G|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	308					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CACCCGTATGAGCACTGTGAG	0.662000														77			4		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395222	139395222	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr9:139395222C>T	uc004chz.3	-	30	5716	c.5716G>A	c.(5716-5718)Gcg>Acg	p.A1906T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1906					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACGGCCGGCGCGTCCTCCTCT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				25			17		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641826	57641826	+	Missense_Mutation	SNP	G	A	A	rs141050797	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:57641826G>A	uc002qny.3	+	3	2139	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	USP29_uc021vci.1_Missense_Mutation_p.V595I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	595					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTCTACCCGTTGAACCAGA	0.488000														52			48		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41045851	41045851	+	Silent	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:41045851C>T	uc003jmj.4	-	17	2323	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	HEATR7B2_uc003jmi.4_Silent_p.E166E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	611							binding	p.E611E(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AACCAACCTTCTCAGTGGAGT	0.443000														48			37		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47970588	47970588	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:47970588C>T	uc002zjo.2	+	22	2953	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	DIP2A_uc011afy.1_Missense_Mutation_p.P860S|DIP2A_uc011afz.1_Missense_Mutation_p.P920S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	924					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GACGCTGCACCCGTGTAATGT	0.532000														79			3		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507051	195507051	+	Silent	SNP	T	C	C	rs74208457		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195507051T>C	uc021xjp.1	-	1	11556	c.11400A>G	c.(11398-11400)tcA>tcG	p.S3800S	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	583					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3800S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.597000														64			5		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122433231	122433231	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:122433231delG	uc003efq.4	+	11	4014	c.3955delG	c.(3955-3957)gaafs	p.E1319fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.E1183fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.E1036fs|PARP14_uc003efs.1_Frame_Shift_Del_p.E1036fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1319	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAA	0.423													---	192	---	---	7	---					
AGGF1	55109	broad.mit.edu	37	5	76358967	76358967	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:76358967delA	uc003ket.3	+	13	2417	c.2035delA	c.(2035-2037)aaafs	p.K679fs		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	679					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAACAAGAACAAAAAAAACTG	0.468													---	180	---	---	7	---					
SRRM3	222183	broad.mit.edu	37	7	75914932	75914933	+	Splice_Site	INS	-	C	C	rs145300654	by1000genomes	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:75914932_75914933insC	uc010ldi.2	+	15	1943	c.1734_splice	c.e15-1	p.S578_splice	SRRM3_uc003uet.1_Splice_Site_p.R35_splice|SRRM3_uc022agm.1_Non-coding_Transcript	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTTCCCGGCAGCGCCGCAAGCG	0.658													---	140	---	---	8	---					
BACE1	23621	broad.mit.edu	37	11	117163878	117163880	+	In_Frame_Del	DEL	CAG	-	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163878_117163880delCAG	uc001pqz.3	-	4	1191_1193	c.730_732delCTG	c.(730-732)ctgdel	p.L244del	BACE1_uc001pqw.3_In_Frame_Del_p.L219del|BACE1_uc001pqx.3_In_Frame_Del_p.L175del|BACE1_uc001pqy.3_In_Frame_Del_p.L200del|BACE1_uc010rxg.2_In_Frame_Del_p.L119del|BACE1_uc010rxh.2_In_Frame_Del_p.L144del|BACE1_uc009yzo.1_5'Flank|AB488780_uc021qqx.1_Non-coding_Transcript	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	244					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGCCTGTGTACAGCGAGTGGTCG	0.512													---	73	---	---	50	---					
HEXA	3073	broad.mit.edu	37	15	72640036	72640037	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:72640036_72640037insT	uc002aun.4	-	9	1343_1344	c.1136_1137insA	c.(1135-1137)aatfs	p.N379fs	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Frame_Shift_Ins_p.N390fs|HEXA_uc010bix.3_Frame_Shift_Ins_p.N379fs|HEXA_uc010biy.2_Frame_Shift_Ins_p.N242fs|HEXA_uc010uko.1_Frame_Shift_Ins_p.N205fs	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	379					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCTTTACTTTATTATCAAACAC	0.545													---	179	---	---	8	---					
