Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HEPH	9843	broad.mit.edu	37	X	65411985	65411985	+	Silent	SNP	A	A	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:65411985A>C	ENST00000519389.1	+	7	1418	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	HEPH_ENST00000343002.2_Silent_p.A359A|HEPH_ENST00000441993.2_Silent_p.A362A|HEPH_ENST00000419594.1_Silent_p.A362A|HEPH_ENST00000374727.3_Silent_p.A362A|HEPH_ENST00000336279.5_Silent_p.A92A			Q9BQS7	HEPH_HUMAN	hephaestin	359	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCATGCAGGCACTCTACAAGG	0.488000													13	52					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10626068	10626068	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:10626068G>A	ENST00000254958.5	-	16	2564	c.2049C>T	c.(2047-2049)cgC>cgT	p.R683R	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.R524R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	683	EGF-like 12; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGACCAGGTCGCGACACGTGC	0.502000									Alagille Syndrome				18	89					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55623923	55623923	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55623923G>A	ENST00000263433.3	-	3	498	c.483C>T	c.(481-483)gcC>gcT	p.A161A	PPP1R12C_ENST00000435544.2_Silent_p.A87A|PPP1R12C_ENST00000376393.2_Silent_p.A161A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	161						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGTTGACGGCGGCGATGTTGG	0.731000													10	20					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595010	140595010	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:140595010G>A	ENST00000341948.4	+	1	1502	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		439	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATATGACCGTGCTGATCGC	0.547000													18	102					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53570870	53570870	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517000													4	19					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:22186712C>T	ENST00000374695.3	-	40	5051	c.4972G>A	c.(4972-4974)Gtg>Atg	p.V1658M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637000													4	26					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482002	123482002	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:123482002C>T	ENST00000280562.5	-	10	1547	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PITPNM2_ENST00000392428.1_Missense_Mutation_p.D169N|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D448N|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D448N			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	448					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGTTAGCATCGCCCTTCTTG	0.682000													12	89					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913429	39913429	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:39913429G>A	ENST00000425673.1	+	16	1973	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E520K|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E579K|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGACAGCGAAACCCTCAC	0.587000													4	57					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34519277	34519277	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519277G>A	ENST00000374012.3	+	15	2340	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAATGCCAAGAAGATCGTGG	0.522000													7	81					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	56					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004645	102004645	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:102004645C>A	ENST00000372735.1	+	4	1307	c.722C>A	c.(721-723)gCa>gAa	p.A241E	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A241E|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A241E			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	241						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATCTGAGGCAAGCCCTCCT	0.517000													16	151					6.31663e-08	6.65807e-08	1	1	0
TGFB2	7042	broad.mit.edu	37	1	218609454	218609454	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:218609454G>A	ENST00000366929.4	+	6	1448	c.981G>A	c.(979-981)cgG>cgA	p.R327R	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.R299R	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	299					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCAACCGGCGGAAGAAGCGTG	0.433000													6	70					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899722	4899722	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:4899722C>G	ENST00000404991.1	-	1	1903	c.1717G>C	c.(1717-1719)Gaa>Caa	p.E573Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	573					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGAAAATTCAGTAGCCTGT	0.458000													5	53					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1960080	1960080	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:1960080C>G	ENST00000399849.2	+	2	256	c.96C>G	c.(94-96)atC>atG	p.I32M	HIC1_ENST00000322941.3_Missense_Mutation_p.I51M	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	51					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		ACGTGATCATCGTGGTGCAGA	0.632000													5	30					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10201608	10201608	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:10201608C>A	ENST00000380833.4	+	13	2658	c.2267C>A	c.(2266-2268)tCc>tAc	p.S756Y	CLCN4_ENST00000380829.1_Missense_Mutation_p.S725Y|CLCN4_ENST00000421085.2_Missense_Mutation_p.S662Y	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	756						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCGAATCCATCATGTTT	0.358000													6	86					0.00198382	0.00200958	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369450	56369450	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:56369450G>A	ENST00000301295.6	+	3	1113	c.691G>A	c.(691-693)Gac>Aac	p.D231N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D156N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D231N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	231	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCGTCATCGACAGCTTCGA	0.547000													7	92					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15361331	15361331	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:15361331C>T	ENST00000376030.2	+	3	799	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	KAZN_ENST00000422387.2_Missense_Mutation_p.R169C|KAZN_ENST00000503743.1_Missense_Mutation_p.R169C|KAZN_ENST00000400798.2_Missense_Mutation_p.R75C|KAZN_ENST00000361144.5_Missense_Mutation_p.R163C|KAZN_ENST00000400797.3_Missense_Mutation_p.R75C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	169					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ACTGGAGAGCCGCGAGGAGCA	0.617000													6	54					0	0	1	0	0
NR2C2	7182	broad.mit.edu	37	3	15079580	15079580	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:15079580G>A	ENST00000425241.1	+	12	1808	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	NR2C2_ENST00000406272.2_Missense_Mutation_p.M482I|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.M482I|NR2C2_ENST00000323373.6_Missense_Mutation_p.M501I			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	482	Ligand-binding (By similarity).				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTAACAGCATGGCGAAGCTGG	0.463000													5	101					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54335724	54335724	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:54335724C>T	ENST00000354646.2	-	4	1173	c.735G>A	c.(733-735)atG>atA	p.M245I	WNK3_ENST00000375159.2_Missense_Mutation_p.M245I|WNK3_ENST00000375169.3_Missense_Mutation_p.M245I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	245	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCTTTGGTTTCATGACTTTAA	0.368000													5	48					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261276	49261276	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:49261276G>A	ENST00000593756.1	+	4	1001	c.429G>A	c.(427-429)ccG>ccA	p.P143P	FGF21_ENST00000222157.3_Silent_p.P143P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	143					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACGGCCTCCCGCTGCACCTGC	0.652000													21	89					0	0	1	0	0
VBP1	7411	broad.mit.edu	37	X	154467052	154467052	+	Splice_Site	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:154467052G>C	ENST00000286428.5	+	6	640		c.e6-1		VBP1_ENST00000459836.1_Splice_Site|VBP1_ENST00000535916.1_Splice_Site	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATTCTTGCAGATATGGCCAG	0.338000													10	191					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122211410	122211410	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:122211410C>G	ENST00000449592.2	+	9	864	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	255						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCACCTGGATCTCACAGTGGG	0.652000											OREG0022206	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257532	41257532	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:41257532C>T	ENST00000307221.4	-	1	598	c.467G>A	c.(466-468)gGa>gAa	p.G156E	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TGATGTATATCCTGTATCATA	0.398000													13	166					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657000													3	40					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123481027	123481027	+	Silent	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:123481027C>A	ENST00000529750.1	+	13	1798	c.1471C>A	c.(1471-1473)Cgg>Agg	p.R491R	GRAMD1B_ENST00000322282.7_Silent_p.R491R|GRAMD1B_ENST00000456860.2_Silent_p.R498R|GRAMD1B_ENST00000450171.2_Silent_p.R182R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	491						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCGTGTGGCTCGGAACAAGAG	0.542000													6	98					0.217242	0.217242	1	1	0
MORC1	27136	broad.mit.edu	37	3	108688549	108688549	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:108688549C>G	ENST00000232603.5	-	26	2653	c.2571G>C	c.(2569-2571)caG>caC	p.Q857H	MORC1_ENST00000483760.1_Missense_Mutation_p.Q836H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTGTTCATCTGCTCTGGGC	0.363000													5	101					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080386	5080386	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:5080386C>T	ENST00000321522.2	-	1	471	c.472G>A	c.(472-474)Gtc>Atc	p.V158I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGGAATGACGAAAATTAAA	0.453000													4	20					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904529	55904529	+	Silent	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:55904529A>T	ENST00000301529.1	-	1	665	c.666T>A	c.(664-666)gtT>gtA	p.V222V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAATGGACAAAACAATATTGA	0.373000													5	89					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318713	9318713	+	Silent	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:9318713C>A	ENST00000261336.2	-	18	2221	c.2193G>T	c.(2191-2193)ggG>ggT	p.G731G	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.G600G	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGGGACTGGCCCTGAACTTT	0.428000													14	104					6.31663e-08	6.65807e-08	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145788905	145788905	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:145788905C>T	ENST00000282903.5	-	19	2222	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	PLOD2_ENST00000494950.1_Missense_Mutation_p.R627H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.R342H|PLOD2_ENST00000360060.3_Missense_Mutation_p.R661H	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	661	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGAAGAGAACGCTGTCGTTC	0.348000													6	34					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33593578	33593578	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:33593578C>T	ENST00000252015.2	-	16	1945	c.1856G>A	c.(1855-1857)aGc>aAc	p.S619N	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S580N|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.S611N|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S221N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	619					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CACCAGGGAGCTGTTGATCTG	0.547000													4	93					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21989343	21989343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:21989343G>A	ENST00000292779.3	+	4	1152	c.991G>A	c.(991-993)Gac>Aac	p.D331N		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACTGCCGCGACGGCCGTCC	0.657000													6	41					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232081457	232081457	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:232081457C>T	ENST00000349938.4	+	5	649	c.455C>T	c.(454-456)cCt>cTt	p.P152L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	152							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TATGCCCTTCCTTTTGTTCCC	0.463000													9	141					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964720	37964720	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:37964720G>C	ENST00000249014.4	+	3	1489	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	357					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCTGGACGAAGAGTGGAGGGC	0.647000													4	3					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971110	21971110	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr9:21971110T>C	ENST00000304494.5	-	2	518	c.248A>G	c.(247-249)cAc>cGc	p.H83R	CDKN2A_ENST00000361570.3_Silent_p.A138A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000579755.1_Silent_p.A97A|CDKN2A_ENST00000530628.2_Silent_p.A97A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.H83P(2)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGTCGTGCACGGGTCG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	14					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557872	29557872	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:29557872A>G	ENST00000358273.4	+	24	3509	c.3126A>G	c.(3124-3126)gtA>gtG	p.V1042V	NF1_ENST00000356175.3_Silent_p.V1042V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1042					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.V1042fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAAGATGGTAGAATACCTGA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	34					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920108	4920108	+	Silent	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:4920108T>C	ENST00000433855.1	+	1	1767	c.901T>C	c.(901-903)Ttg>Ctg	p.L301L	KCNA6_ENST00000280684.3_Silent_p.L301L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	301						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATCATTGACTTGGTGGCTAT	0.582000										HNSCC(72;0.22)			23	63					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040012	102040012	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:102040012G>A	ENST00000496391.1	+	7	1533	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G37S|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.G75S|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.G18S			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	75	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						TGCTGGGGCCGGCAGTGGAGA	0.512000													19	115					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659934	179659934	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:179659934A>G	ENST00000589042.1	-	7	1184	c.960T>C	c.(958-960)tcT>tcC	p.S320S	TTN_ENST00000342992.6_Silent_p.S320S|TTN_ENST00000342175.6_Silent_p.S320S|TTN_ENST00000591111.1_Silent_p.S320S|TTN_ENST00000360870.5_Silent_p.S320S|TTN_ENST00000460472.2_Silent_p.S320S|TTN_ENST00000359218.5_Silent_p.S320S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	320	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACCTAACAGACCTGATGG	0.547000													10	60					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96222495	96222495	+	Splice_Site	SNP	T	T	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:96222495T>A	ENST00000437043.3	+	4	1560		c.e4+2		CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Splice_Site|ERAP2_ENST00000379904.4_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGTCAAGGTGAGACTGAGT	0.378000													12	77					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	50					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118797579	118797579	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:118797579C>T	ENST00000394610.1	-	3	471	c.207G>A	c.(205-207)ggG>ggA	p.G69G	SEPT6_ENST00000354416.3_Silent_p.G69G|SEPT6_ENST00000354228.4_Silent_p.G69G|SEPT6_ENST00000489216.1_Silent_p.G69G|SEPT6_ENST00000394616.4_Silent_p.G11G|SEPT6_ENST00000394617.2_Silent_p.G99G|SEPT6_ENST00000343984.5_Silent_p.G69G|SEPT6_ENST00000360156.7_Silent_p.G69G	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	69					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGGCTGGCTCCCCTTCGAATT	0.507000			T	MLL	AML								73	289					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48211016	48211016	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:48211016G>A	ENST00000394747.1	-	24	3706	c.3357C>T	c.(3355-3357)gtC>gtT	p.V1119V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.V1119V|ABCC11_ENST00000353782.5_Silent_p.V1119V|ABCC11_ENST00000356608.2_Silent_p.V1119V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1119						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAGCTTCCGAGACACACATCT	0.483000													5	54					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587000													9	119					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671747	45671747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:45671747G>A	ENST00000308064.2	-	4	1397	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	243					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTCTCGCTGCGCGAAGCCAGA	0.657000													4	66					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	66					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134644737	134644737	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:134644737G>A	ENST00000361388.2	+	12	1853	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000543443.1_Missense_Mutation_p.A442T|CALD1_ENST00000393118.2_Missense_Mutation_p.A457T|CALD1_ENST00000495522.1_Missense_Mutation_p.A456T|CALD1_ENST00000361675.2_Missense_Mutation_p.A692T|CALD1_ENST00000361901.2_Missense_Mutation_p.A437T|CALD1_ENST00000424922.1_Missense_Mutation_p.A431T|CALD1_ENST00000422748.1_Missense_Mutation_p.A462T|CALD1_ENST00000417172.1_Missense_Mutation_p.A437T	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	692					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AACAAAAAGCGCAAAACCTAC	0.418000													3	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:7578247A>T	ENST00000420246.2	-	6	734	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(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)		CTCCACACGCAAATTTCCTTC	0.552000		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)			10	43					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425867	72425867	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr4:72425867C>A	ENST00000340595.3	+	20	3059	c.2863C>A	c.(2863-2865)Ctc>Atc	p.L955I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.L915I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L999I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L999I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	999						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCACGACCTCAGCTTCCT	0.413000													24	109					3.99451e-17	4.32738e-17	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50720062	50720062	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:50720062G>A	ENST00000449103.1	-	21	3595	c.3455C>T	c.(3454-3456)cCg>cTg	p.P1152L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1152L			O15031	PLXB2_HUMAN	plexin B2	1152					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACCTCCGGGGGCTCACA	0.677000													3	38					0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	G	A	rs16984945	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:56728608G>A	ENST00000371168.3	+	2	138	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483000													21	173					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666941	19666941	+	Missense_Mutation	SNP	G	G	A	rs140721787		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:19666941G>A	ENST00000284885.3	-	20	2323	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	764	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTGTAACCGAATCAAGGAA	0.284000													7	101					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	92					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5012303	5012303	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:5012303C>T	ENST00000250076.3	-	4	1197	c.543G>A	c.(541-543)gaG>gaA	p.E181E	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.E181E|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	154					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATTCCTTCTTCTCCCATGGCT	0.532000													12	150					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42147786	42147786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr8:42147786C>G	ENST00000520810.1	+	4	499	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G	IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.R46G|IKBKB_ENST00000520835.1_Missense_Mutation_p.R103G|IKBKB_ENST00000519735.1_Missense_Mutation_p.R105G|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	105	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGAGATCTCCGGAAGGTGAG	0.612000													4	13					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670503	55670503	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55670503G>A	ENST00000527223.2	-	12	1755	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L	DNAAF3_ENST00000524407.2_Missense_Mutation_p.S518L|DNAAF3_ENST00000455045.1_Missense_Mutation_p.S464L|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S565L|CTD-2587H24.4_ENST00000587871.1_Intron|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	518																	CAGAACCTCTGAGAGTGAACC	0.627000													8	47					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65548417	65548417	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:65548417A>G	ENST00000580974.1	+	3	938	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	PITPNC1_ENST00000581322.1_Missense_Mutation_p.Y81C|PITPNC1_ENST00000299954.9_Missense_Mutation_p.Y81C|PITPNC1_ENST00000335257.6_Missense_Mutation_p.Y81C	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	81					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAAATATTTTATGTGACAGAG	0.413000													8	63					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845405	7845405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr6:7845405C>T	ENST00000283147.6	+	2	856	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	233					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCCTCGTCAGCGACACCACAA	0.483000													4	105					0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368258	74368258	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:74368258C>T	ENST00000290438.3	-	8	673	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	211										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CGTGTGCGTTCAGCAGCGCCC	0.582000													5	76					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789551	76789551	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:76789551G>C	ENST00000287239.4	+	18	5458	c.4969G>C	c.(4969-4971)Gat>Cat	p.D1657H	KAT6B_ENST00000372724.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372711.1_Missense_Mutation_p.D1474H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1657	Interaction with RUNX1 and RUNX2.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ATCAGTTTCAGATCATTCACA	0.473000													5	100					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34519268	34519268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519268G>C	ENST00000374012.3	+	15	2331	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTCCCATCAGAATGCCAAGA	0.517000													7	79					0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66278499	66278499	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:66278499G>A	ENST00000419755.3	+	2	252	c.174G>A	c.(172-174)tcG>tcA	p.S58S	BBS1_ENST00000393994.2_Silent_p.S21S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Silent_p.S21S|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000318312.7_Silent_p.S21S																							AGGCCAATTCGAAGTGGTTGG	0.527000													19	210					0	0	1	0	0
RP11-418J17.3	0	broad.mit.edu	37	1	119862914	119862915	+	RNA	INS	-	-	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:119862914_119862915insT	ENST00000457719.1	-	0	341																											ccctcccttccttttccttcct	0.426													3	6	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	4	---	---	---	---					
UBAP2L	9898	broad.mit.edu	37	1	154221860	154221862	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:154221860_154221862delCCT	ENST00000428931.1	+	12	1327_1329	c.1160_1162delCCT	c.(1159-1164)acc>a	p.TS387del	UBAP2L_ENST00000361546.2_In_Frame_Del_p.TS387del|UBAP2L_ENST00000343815.6_In_Frame_Del_p.TS387del|UBAP2L_ENST00000271877.7_In_Frame_Del_p.TS398del	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	387					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCACCACCACCTCCTCTTGGGA	0.522													17	148	---	---	---	---					
LOC101929019	101929019	broad.mit.edu	37	4	12250556	12250557	+	RNA	INS	-	-	T	rs144696462		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr4:12250556_12250557insT	ENST00000505386.1	+	0	310																											TTTGGTTTTGGttttttttttt	0.426													3	3	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94694008	94694011	+	RNA	DEL	ACAC	ACAC	-	rs146139653		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr8:94694008_94694011delACAC	ENST00000501400.1	-	0	692					NR_033858.1																						atacacacatacacacacacacac	0.373													3	4	---	---	---	---					
LINC01503	100506119	broad.mit.edu	37	9	132101793	132101794	+	RNA	DEL	GT	GT	-	rs71666473		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr9:132101793_132101794delGT	ENST00000436710.1	+	0	419																											GGGGGGTAGGgtgtgtgtgtgt	0.574													2	4	---	---	---	---					
ZNF503-AS1	253264	broad.mit.edu	37	10	77089193	77089196	+	RNA	DEL	CTTT	CTTT	-	rs71024539		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:77089193_77089196delCTTT	ENST00000416398.1	+	0	262				RP11-399K21.11_ENST00000418818.2_lincRNA	NR_038223.1																						tccttccttcctttctttctttct	0.397													2	4	---	---	---	---					
RP11-264E18.1	0	broad.mit.edu	37	10	130115029	130115032	+	RNA	DEL	GTGT	GTGT	-	rs72070262		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:130115029_130115032delGTGT	ENST00000454492.1	-	0	253																											ATCAGAAATGgtgtgtgtgtgtgt	0.436													3	3	---	---	---	---					
DISC1FP1	101929222	broad.mit.edu	37	11	90279580	90279581	+	RNA	INS	-	-	AC	rs36206496	by1000genomes	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:90279580_90279581insAC	ENST00000562678.1	+	0	43																											aacatgcatagacacacacaca	0.327													3	4	---	---	---	---					
RP11-26L16.1	0	broad.mit.edu	37	14	86822636	86822636	+	RNA	DEL	T	T	-			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr14:86822636delT	ENST00000553679.1	+	0	133																											tctttctttcttttttttttt	0.438													2	4	---	---	---	---					
LOC100128714	100128714	broad.mit.edu	37	15	26233751	26233764	+	RNA	DEL	TGTGTGTGTGTGTG	TGTGTGTGTGTGTG	-	rs71933266		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:26233751_26233764delTGTGTGTGTGTGTG	ENST00000383019.2	+	0	207					NR_040082.1																						aaccttgttttgtgtgtgtgtgtgtgtgtgtgtg	0.486													2	4	---	---	---	---					
RP11-382A20.4	0	broad.mit.edu	37	15	84063040	84063041	+	RNA	INS	-	-	AGGG	rs71464540		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:84063040_84063041insAGGG	ENST00000565495.1	+	0	264																											gggagggagggaggaaggatgg	0.554													2	4	---	---	---	---					
LOC101927580	101927580	broad.mit.edu	37	16	59902225	59902226	+	RNA	DEL	AT	AT	-	rs765663	by1000genomes	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:59902225_59902226delAT	ENST00000568279.1	+	0	173																											acacacacacatggtcatagaa	0.441													3	3	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													7	67	---	---	---	---					
JAK3	3718	broad.mit.edu	37	19	17954641	17954642	+	Frame_Shift_Ins	INS	-	-	C	rs139738701	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:17954641_17954642insC	ENST00000458235.1	-	3	351_352	c.252_253insG	c.(250-255)ccgccafs	p.P85fs	JAK3_ENST00000534444.1_Frame_Shift_Ins_p.P85fs|JAK3_ENST00000527670.1_Frame_Shift_Ins_p.P85fs|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	85	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAGATGTGGCTCGGGGGGAACC	0.589		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								10	47	---	---	---	---					
SDCBP2-AS1	100507495	broad.mit.edu	37	20	1332935	1332936	+	RNA	INS	-	-	C	rs34296791		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:1332935_1332936insC	ENST00000446423.1	+	0	109					NR_040048.1																						cttccttccttccttccttcct	0.480													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11056427	11056427	+	RNA	DEL	G	G	-	rs137953514		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:11056427delG	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acatatttttggggggtctct	0.303													9	5	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000407217.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													8	10	---	---	---	---					
VCX3A	51481	broad.mit.edu	37	X	6451813	6451842	+	In_Frame_Del	DEL	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	-	rs151295255	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:6451813_6451842delGCTCTCCTGACTCAGTGGTTCCTCCACCTG	ENST00000381089.3	-	3	811_840	c.505_534delCAGGTGGAGGAACCACTGAGTCAGGAGAGC	c.(505-534)del	p.QVEEPLSQES169del	VCX3A_ENST00000398729.1_In_Frame_Del_p.QVEEPLSQES149del	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	169	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						CTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGA	0.583													59	301	---	---	---	---					
SPANXN4	441525	broad.mit.edu	37	X	142121809	142121811	+	Splice_Site	DEL	AGA	AGA	-	rs78094296		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:142121809_142121811delAGA	ENST00000446864.1	+	2	175_176	c.78_splice	c.e2-1	p.K28_splice	SPANXN4_ENST00000370504.3_Intron	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	28										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTTTTACCAGAAGAAGAAGAA	0.414													6	5	---	---	---	---					
