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
GPX1	2876	broad.mit.edu	37	3	49395586	49395586	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:49395586G>T	ENST00000419783.1	-	1	447	c.126C>A	c.(124-126)atC>atA	p.I42I	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	42					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCACATTCTCGATAAGTAGTA	0.711000													3	14					0.115264	0.117198	1	1	0
HELLS	3070	broad.mit.edu	37	10	96361378	96361378	+	Nonstop_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:96361378A>T	ENST00000348459.5	+	22	2621	c.2516A>T	c.(2515-2517)tAa>tTa	p.*839L	HELLS_ENST00000394045.1_Nonstop_Mutation_p.*741L|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Nonstop_Mutation_p.*885L|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	0					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGTTTGTTTTAAAGTGGAGCT	0.328000													7	36					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	42					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115060	168115060	+	Silent	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:168115060T>C	ENST00000409728.1	+	11	2192	c.2103T>C	c.(2101-2103)agT>agC	p.S701S	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Silent_p.S701S|XIRP2_ENST00000409605.1_Silent_p.S446S|XIRP2_ENST00000409043.1_Silent_p.S668S|XIRP2_ENST00000409756.2_Silent_p.S668S|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTGCAGAGTGCTGAAAAGG	0.373000													6	13					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972493	61972493	+	Silent	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:61972493T>A	ENST00000316193.8	-	5	684	c.543A>T	c.(541-543)gcA>gcT	p.A181A	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Silent_p.A86A	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	181					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCTTGAGCAGTGCGTCATGGT	0.572000									Russell-Silver syndrome				72	129					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110839574	110839574	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:110839574C>A	ENST00000375820.4	-	25	1760	c.1639G>T	c.(1639-1641)Ggc>Tgc	p.G547C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	547	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAAAGCCTGGGTCTCCT	0.597000													15	40					3.65163e-15	4.96163e-15	1	1	0
CDH24	64403	broad.mit.edu	37	14	23517525	23517525	+	Silent	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:23517525C>G	ENST00000397359.3	-	13	2383	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Silent_p.G708G|CDH24_ENST00000487137.2_Silent_p.G670G|CDH24_ENST00000554034.1_Silent_p.G670G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	708					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggggggccgccccgTCCGGGT	0.761000													57	52					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767853	31767853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:31767853C>T	ENST00000240587.4	-	2	3173	c.2846G>A	c.(2845-2847)tGg>tAg	p.W949*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	949					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTTGGCCAGCCAGTGGCTGAT	0.537000													31	29					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599305	247599305	+	Silent	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:247599305T>C	ENST00000336119.3	+	6	3278	c.2532T>C	c.(2530-2532)tgT>tgC	p.C844C	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Silent_p.C787C|NLRP3_ENST00000391828.3_Silent_p.C844C|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	844					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCATGTTGTCAGGATCTTG	0.507000													21	91					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569165	113569165	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:113569165C>G	ENST00000297405.5	-	25	4305	c.4061G>C	c.(4060-4062)tGt>tCt	p.C1354S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1354S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1250S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1314S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1354	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATCTTCACAGTGTGAGAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	32					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													5	95					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084175	26084175	+	RNA	SNP	G	G	A	rs61752033		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr20:26084175G>A	ENST00000478176.1	-	0	282					NR_003678.1																						GCAATTTCTCGATCTACACGA	0.363000													3	18					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899599	4899599	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:4899599C>A	ENST00000404991.1	-	1	2026	c.1840G>T	c.(1840-1842)Gtt>Ttt	p.V614F	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	614					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)		GTTGAAGAAACAACTCTGGCG	0.438000													10	40					1.61879e-10	2.02683e-10	1	1	0
TEP1	7011	broad.mit.edu	37	14	20859842	20859842	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:20859842C>A	ENST00000262715.5	-	13	2053	c.2013G>T	c.(2011-2013)ctG>ctT	p.L671L	TEP1_ENST00000556935.1_Silent_p.L563L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	671	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGCAGGGGCAGGCTGTGCT	0.507000													57	164					2.25088e-17	3.23231e-17	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52469737	52469737	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:52469737C>T	ENST00000231721.2	-	16	2230	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	744					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCCCCGGCTCCGGCTCCGGAA	0.667000													42	95					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	135975417	135975417	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:135975417C>T	ENST00000471595.1	+	3	342	c.324C>T	c.(322-324)gtC>gtT	p.V108V	PCCB_ENST00000469217.1_Silent_p.V108V|PCCB_ENST00000478469.1_Silent_p.V108V|PCCB_ENST00000490504.1_Silent_p.V108V|PCCB_ENST00000251654.4_Silent_p.V108V|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000466072.1_Silent_p.V108V|PCCB_ENST00000468777.1_Silent_p.V108V|PCCB_ENST00000483687.1_Silent_p.V108V|PCCB_ENST00000462637.1_Intron|PCCB_ENST00000474833.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	108	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ACAGCGTGGTCACTGGACGAG	0.403000													33	8					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047557	11047557	+	RNA	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr21:11047557G>T	ENST00000470054.1	-	0	697									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)		TTTGTCACACGTATCACACAC	0.333000													19	425					1.9806e-07	2.29932e-07	1	1	0
UBR4	23352	broad.mit.edu	37	1	19447883	19447883	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:19447883C>T	ENST00000375267.2	-	68	9944	c.9941G>A	c.(9940-9942)gGc>gAc	p.G3314D	UBR4_ENST00000375226.2_Missense_Mutation_p.G3290D|UBR4_ENST00000375254.3_Missense_Mutation_p.G3314D|UBR4_ENST00000375217.2_Missense_Mutation_p.G3307D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3314					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGACACGCCCTCATCCAC	0.597000													17	46					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40741249	40741249	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:40741249C>A	ENST00000392038.2	-	12	1482	c.1184G>T	c.(1183-1185)gGg>gTg	p.G395V	AKT2_ENST00000311278.6_Missense_Mutation_p.G352V|AKT2_ENST00000579047.1_Missense_Mutation_p.G333V|AKT2_ENST00000424901.1_Missense_Mutation_p.G395V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	395	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCTGGGCCCCCCACCAAGCCT	0.647000			A		"""ovarian, pancreatic """								16	74					0.000132079	0.000142928	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145439850	145439850	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:145439850G>T	ENST00000369317.4	+	3	730	c.396G>T	c.(394-396)ccG>ccT	p.P132P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	132					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGACCGCCCGAGCCAGCCAA	0.403000													158	35					2.18507e-80	3.80504e-80	1	1	0
DDX54	79039	broad.mit.edu	37	12	113599166	113599166	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:113599166T>A	ENST00000314045.7	-	19	2349	c.2322A>T	c.(2320-2322)aaA>aaT	p.K774N	DDX54_ENST00000306014.5_Missense_Mutation_p.K774N|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	774					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAATTTTCTGTTTCTGTTTCC	0.582000													38	34					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657277	72657277	+	RNA	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:72657277G>T	ENST00000425256.1	-	0	2634					NR_002164.1																						ccaccatagggccctgccagg	0.463000													16	52					1.96292e-10	2.43756e-10	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	22					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156380	70156380	+	Silent	SNP	G	G	T	rs143921369		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:70156380G>T	ENST00000335568.5	+	5	1163	c.1161G>T	c.(1159-1161)ggG>ggT	p.G387G	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	387					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G387G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTACCATGGGATCCCTATGG	0.428000													34	51					9.85913e-13	1.28764e-12	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117376266	117376266	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:117376266C>T	ENST00000321322.6	-	9	2146	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	DSCAML1_ENST00000527706.1_Silent_p.Q445Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	655	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCTAGAGATCTGCAGGGAGC	0.602000													6	68					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826034	34826034	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:34826034T>G	ENST00000192788.5	+	14	2072	c.1901T>G	c.(1900-1902)cTc>cGc	p.L634R	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L634R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	634										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCCAGAGTCTCTTCCGGGGT	0.483000													41	29					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61908404	61908404	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:61908404C>G	ENST00000394818.3	+	10	1683	c.1481C>G	c.(1480-1482)aCc>aGc	p.T494S	INCENP_ENST00000278849.4_Missense_Mutation_p.T494S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	494					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTCCGGACCTTTCTGCAC	0.632000													6	113					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755076	140755076	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:140755076G>C	ENST00000517434.1	+	1	1426	c.1426G>C	c.(1426-1428)Gca>Cca	p.A476P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTGAATGCACTGGACCC	0.582000													6	233					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324070	172324070	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:172324070A>G	ENST00000393784.3	+	3	287	c.148A>G	c.(148-150)Aca>Gca	p.T50A	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Missense_Mutation_p.T50A	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	50					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTATAACGACAGAAGTGTA	0.502000													35	30					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056953	73056953	+	Nonsense_Mutation	SNP	T	T	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:73056953T>G	ENST00000261180.4	+	19	3149	c.3053T>G	c.(3052-3054)tTa>tGa	p.L1018*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1018					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCCAATGGTTAGGAAAAGCT	0.393000													7	36					0	0	1	0	0
HIGD2A	192286	broad.mit.edu	37	5	175816478	175816478	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:175816478G>A	ENST00000274787.2	+	2	374	c.301G>A	c.(301-303)Gct>Act	p.A101T		NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	101	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGTCACTGCTATGAAGTC	0.607000													5	174					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456600	70456600	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:70456600G>T	ENST00000377844.4	-	5	1801	c.1042C>A	c.(1042-1044)Caa>Aaa	p.Q348K	KLHL1_ENST00000545028.1_Missense_Mutation_p.Q155K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	348					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAAAACTCTTGATTTCTGATA	0.368000													15	7					5.03518e-11	6.35692e-11	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33353038	33353038	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:33353038C>A	ENST00000023064.4	-	6	881	c.690G>T	c.(688-690)tgG>tgT	p.W230C	SLC7A9_ENST00000587772.1_Missense_Mutation_p.W230C|SLC7A9_ENST00000590341.1_Missense_Mutation_p.W230C	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	230			W -> R (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATCATAGGCCCAGAGTCCAT	0.512000													38	150					1.33152e-38	2.16909e-38	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110839573	110839573	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:110839573C>A	ENST00000375820.4	-	25	1761	c.1640G>T	c.(1639-1641)gGc>gTc	p.G547V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	547	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTGGAAAGCCTGGGTCTCC	0.592000													16	42					2.65835e-16	3.66127e-16	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616573	77616573	+	Nonsense_Mutation	SNP	G	G	T	rs144986646	by1000genomes	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:77616573G>T	ENST00000521891.2	+	2	698	c.250G>T	c.(250-252)Gaa>Taa	p.E84*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E84*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E84*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E84*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCTGCAACGAATGTGCCAC	0.507000										HNSCC(33;0.089)			130	247					7.10032e-79	1.22937e-78	1	1	0
BBS5	129880	broad.mit.edu	37	2	170349500	170349500	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:170349500G>T	ENST00000295240.3	+	6	879	c.503G>T	c.(502-504)tGg>tTg	p.W168L	BBS5_ENST00000392663.2_Missense_Mutation_p.W168L|BBS5_ENST00000554017.1_Missense_Mutation_p.W168L|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.W168L	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AATGGAGTTTGGAATTTATCC	0.323000									Bardet-Biedl syndrome				19	68					9.39395e-14	1.24841e-13	1	1	0
ROR2	4920	broad.mit.edu	37	9	94488962	94488962	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:94488962A>T	ENST00000375708.3	-	8	1445	c.1247T>A	c.(1246-1248)cTg>cAg	p.L416Q	ROR2_ENST00000375715.1_Missense_Mutation_p.L276Q|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	416					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCGATGACCAGTGGAATTGC	0.532000													16	60					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351705	25351705	+	RNA	SNP	A	A	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:25351705A>C	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AACCTTGGAAATCTGAACAAA	0.463000													16	43					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43931184	43931184	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:43931184G>T	ENST00000282406.4	+	9	1825	c.1715G>T	c.(1714-1716)aGt>aTt	p.S572I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	572						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATATGGAGAGTGTTAATAAA	0.383000													19	41					1.37878e-21	2.04789e-21	1	1	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215870	168215870	+	RNA	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:168215870G>T	ENST00000358576.4	-	0	711					NR_026844.1															lung(1)	1						TGGAAATCAAGCTCTTGGTCT	0.383000													10	79					3.86212e-05	4.20943e-05	1	1	0
MYO10	4651	broad.mit.edu	37	5	16761612	16761612	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:16761612G>C	ENST00000513610.1	-	17	2154	c.1700C>G	c.(1699-1701)aCa>aGa	p.T567R		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	567	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCTCGAAATGTATCTCTGTT	0.368000													5	142					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9229988	9229988	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:9229988G>C	ENST00000318602.7	-	27	3612	c.3305C>G	c.(3304-3306)tCc>tGc	p.S1102C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1102					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GATATAGGCGGAGAGGGTCAC	0.453000													13	18					0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156798303	156798303	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:156798303C>A	ENST00000252971.6	-	3	1417	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	MNX1_ENST00000543409.1_Missense_Mutation_p.G161C|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	373					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGCTGGCGCCGTTGCTGTAG	0.731000													14	25					0.000308642	0.000329291	1	1	0
NUP107	57122	broad.mit.edu	37	12	69129056	69129056	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:69129056G>A	ENST00000229179.4	+	26	2766	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	NUP107_ENST00000539906.1_Missense_Mutation_p.D783N|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000378905.2_Missense_Mutation_p.D573N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	812					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTAACTGCTGATGTGAAGGA	0.383000													35	107					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529006	57529006	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:57529006G>T	ENST00000420713.1	+	4	951	c.839G>T	c.(838-840)cGc>cTc	p.R280L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GTCTTTAGCCGCTCAACACTT	0.418000													16	12					5.35267e-07	6.05171e-07	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	48					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18059602	18059602	+	Silent	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:18059602G>C	ENST00000205890.5	+	48	8891	c.8553G>C	c.(8551-8553)gcG>gcC	p.A2851A	MYO15A_ENST00000418233.3_Silent_p.A115A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2851	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCCCGAGCGCACCAGGTCA	0.547000													165	66					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263720	3263720	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:3263720C>A	ENST00000520002.1	-	16	2653	c.2098G>T	c.(2098-2100)Gat>Tat	p.D700Y	CSMD1_ENST00000542608.1_Missense_Mutation_p.D699Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.D699Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D699Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D700Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D700Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D700Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	700	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCCAGGATCATGGCACTCA	0.388000													3	3					0.115264	0.117198	1	1	0
PDCD10	11235	broad.mit.edu	37	3	167414851	167414851	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:167414851C>A	ENST00000392750.2	-	5	631	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L	PDCD10_ENST00000473645.2_Missense_Mutation_p.V72L|PDCD10_ENST00000461494.1_Missense_Mutation_p.V72L|PDCD10_ENST00000497056.2_Missense_Mutation_p.V72L|PDCD10_ENST00000487947.2_Missense_Mutation_p.V72L|PDCD10_ENST00000470131.1_Missense_Mutation_p.V72L|PDCD10_ENST00000492396.1_Missense_Mutation_p.V9L|PDCD10_ENST00000471885.1_Missense_Mutation_p.V72L	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	72					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTAACTTCCACGCTTTTTTTC	0.338000													4	53					0.150653	0.151654	1	1	0
STRA8	346673	broad.mit.edu	37	7	134928143	134928143	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:134928143A>T	ENST00000275764.3	+	4	400	c.400A>T	c.(400-402)Atg>Ttg	p.M134L		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	134					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATATGCCAGCATGTATTCTGG	0.502000													14	36					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344748	20344748	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:20344748A>C	ENST00000298642.2	+	1	358	c.322A>C	c.(322-324)Act>Cct	p.T108P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCTTTTCACTGGAACTGA	0.438000													22	79					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98866890	98866890	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:98866890C>A	ENST00000477737.1	+	20	2987	c.2783C>A	c.(2782-2784)tCc>tAc	p.S928Y	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	928										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCAATTCAATCCTATGAAAAG	0.368000													23	56					1.66031e-10	2.07026e-10	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158746835	158746835	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:158746835C>A	ENST00000339258.1	-	1	590	c.591G>T	c.(589-591)ctG>ctT	p.L197L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CAAAGTCCACCAGAATGTTAG	0.403000													34	19					2.19358e-23	3.29037e-23	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30803072	30803072	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr18:30803072C>G	ENST00000383096.3	-	18	2112	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	CCDC178_ENST00000583930.1_Missense_Mutation_p.E644Q|CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E644Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.E644Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E644Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E644Q					coiled-coil domain containing 178																		ATTCTTACCTCAGTTTCTATT	0.274000													6	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089552	9089552	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:9089552C>A	ENST00000397910.4	-	1	2466	c.2263G>T	c.(2263-2265)Ggg>Tgg	p.G755W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	755	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGAGTCCCTGTGGTAATA	0.478000													86	28					2.58158e-40	4.25119e-40	1	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756345	94756345	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:94756345G>A	ENST00000554723.1	-	2	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R196C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R196C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R196C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	196					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGGCATTGCGAAAATTCATA	0.398000													19	44					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764181	77764181	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:77764181C>A	ENST00000521891.2	+	10	5472	c.5024C>A	c.(5023-5025)aCt>aAt	p.T1675N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1649N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1630N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1630N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1630	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1675I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAAGCAAACTCCTGATTTA	0.438000										HNSCC(33;0.089)			50	50					3.76525e-18	5.43271e-18	1	1	0
UMOD	7369	broad.mit.edu	37	16	20359825	20359825	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:20359825G>T	ENST00000396134.2	-	4	1020	c.897C>A	c.(895-897)gcC>gcA	p.A299A	UMOD_ENST00000302509.4_Silent_p.A266A|UMOD_ENST00000570689.1_Silent_p.A266A|UMOD_ENST00000424589.1_Silent_p.A299A|UMOD_ENST00000396138.4_Silent_p.A315A|UMOD_ENST00000396142.2_Silent_p.A266A	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	266					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGCCGGCACAGGCCTTCACCT	0.672000													14	7					2.31682e-05	2.54347e-05	1	1	0
RHBDL3	162494	broad.mit.edu	37	17	30643292	30643292	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:30643292G>A	ENST00000269051.4	+	8	938	c.924G>A	c.(922-924)atG>atA	p.M308I	RHBDL3_ENST00000538145.1_Missense_Mutation_p.M300I|RHBDL3_ENST00000536287.1_Missense_Mutation_p.M210I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	308					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGCTGCGGATGGCTGTGGCCC	0.547000													126	120					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	813718	813718	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:813718G>T	ENST00000297440.6	+	10	1985	c.1965G>T	c.(1963-1965)aaG>aaT	p.K655N	HEATR2_ENST00000313147.5_Missense_Mutation_p.K655N|HEATR2_ENST00000403952.3_Missense_Mutation_p.K80N	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	655							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGTGACAAAGGACATCCTGG	0.637000													102	115					4.22328e-53	7.18906e-53	1	1	0
GALNTL6	442117	broad.mit.edu	37	4	172735812	172735812	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:172735812C>A	ENST00000506823.1	+	2	738	c.81C>A	c.(79-81)ctC>ctA	p.L27L	GALNTL6_ENST00000511251.1_Silent_p.L27L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	27						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACGTTGGTCTCTGGTCTCTGT	0.483000													17	26					4.7546e-09	5.69425e-09	1	1	0
HDGFRP3	50810	broad.mit.edu	37	15	83826316	83826316	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:83826316G>C	ENST00000299633.4	-	4	913	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		104					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GAGCTCTGTTGCTGAATTGCC	0.353000													3	54					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832220	165832220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:165832220G>A	ENST00000366882.1	-	12	1025	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.Q301*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.Q291*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	291	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGGTCCACCTGGAAAAGCGCA	0.378000													17	4					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577696	92577696	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:92577696G>T	ENST00000298047.6	+	18	11180	c.11163G>T	c.(11161-11163)aaG>aaT	p.K3721N	FAT3_ENST00000525166.1_Missense_Mutation_p.K3571N|FAT3_ENST00000533797.1_Missense_Mutation_p.K56N|FAT3_ENST00000409404.2_Missense_Mutation_p.K3721N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3721					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATCCAGAAGCTGTCCAATG	0.542000										TCGA Ovarian(4;0.039)			10	22					0.00136819	0.00144447	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8341719	8341719	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:8341719C>A	ENST00000381196.4	-	37	5464	c.4921G>T	c.(4921-4923)Gtc>Ttc	p.V1641F	PTPRD_ENST00000397617.3_Missense_Mutation_p.V1234F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1234F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1619F|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1628F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1641F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1231F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1231F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1235F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1234F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1641F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1641					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTCCTGTGACATTCTCTCCC	0.428000										TSP Lung(15;0.13)			35	89					1.62957e-23	2.45652e-23	1	1	0
ATP1B4	23439	broad.mit.edu	37	X	119505007	119505007	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:119505007C>A	ENST00000218008.3	+	4	561	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.N125K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.N164K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	168					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TCAACTTCAACGTTTCTGAAC	0.408000													44	11					2.78941e-39	4.5686e-39	1	1	0
FAM155B	27112	broad.mit.edu	37	X	68749486	68749486	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:68749486A>C	ENST00000252338.4	+	3	1148	c.1106A>C	c.(1105-1107)aAg>aCg	p.K369T		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	370	Poly-Lys.					integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TGTGAGGCGAAGAAGAAGAAG	0.527000													4	10					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4712509	4712509	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:4712509G>T	ENST00000302640.8	+	19	2408	c.2058G>T	c.(2056-2058)tgG>tgT	p.W686C	ITPR1_ENST00000456211.2_Missense_Mutation_p.W686C|ITPR1_ENST00000423119.2_Missense_Mutation_p.W701C|ITPR1_ENST00000354582.6_Missense_Mutation_p.W701C|ITPR1_ENST00000357086.4_Missense_Mutation_p.W701C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.W686C	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	701					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCTGTTTTGGAGGGACAGCA	0.498000													10	3					2.27111e-07	2.60662e-07	1	1	0
SBSN	374897	broad.mit.edu	37	19	36018402	36018402	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:36018402C>T	ENST00000452271.2	-	1	810	c.782G>A	c.(781-783)gGc>gAc	p.G261D	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	134						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACCCCCTGGCCAAATCTCCC	0.622000													6	5					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74472971	74472971	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:74472971G>A	ENST00000591885.1	-	9	1606	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	RHBDF2_ENST00000389760.4_Silent_p.S352S|RHBDF2_ENST00000313080.4_Silent_p.S381S			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	381					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGCGGCGGTAGCTGCGGTTCA	0.657000													12	21					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													3	55					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269316	150269316	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:150269316G>A	ENST00000255945.2	+	3	333	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R67Q	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	53							GTP binding	p.R53Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGGCCGGAAAGTGTTT	0.473000													3	47					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14757818	14757818	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr18:14757818G>T	ENST00000358984.4	+	5	802	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A208S|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	208										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTTTAGCACAGCCCTCATGCT	0.363000													5	31					0.217242	0.217242	1	1	0
TG	7038	broad.mit.edu	37	8	133900463	133900463	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:133900463T>C	ENST00000220616.4	+	10	2451	c.2411T>C	c.(2410-2412)gTg>gCg	p.V804A	TG_ENST00000377869.1_Missense_Mutation_p.V804A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	804	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCTGCTAGTGAAGATCATG	0.522000													12	43					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26702189	26702189	+	Silent	SNP	C	C	G	rs140161941		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:26702189C>G	ENST00000272371.2	-	18	2283	c.2157G>C	c.(2155-2157)ccG>ccC	p.P719P	OTOF_ENST00000403946.3_Silent_p.P719P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	719					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGCTGGTCCGGCCACCAGC	0.652000													10	24					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595368	36595368	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:36595368C>A	ENST00000299440.5	+	2	626	c.514C>A	c.(514-516)Ccc>Acc	p.P172T		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	172	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCGATCCACCCCACTGAGTT	0.517000									Familial Hemophagocytic Lymphohistiocytosis				7	37					0.0381472	0.0391817	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212798413	212798413	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:212798413G>T	ENST00000294829.3	+	1	625	c.194G>T	c.(193-195)cGt>cTt	p.R65L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	65										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCACAACCGTGTCCGTATG	0.522000													86	51					3.85659e-59	6.63946e-59	1	1	0
SLX4	84464	broad.mit.edu	37	16	3639153	3639153	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:3639153C>A	ENST00000294008.3	-	12	5126	c.4486G>T	c.(4486-4488)Ggc>Tgc	p.G1496C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1496	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCAGGGAGCCCGCGCCCGAG	0.642000								Direct reversal of damage					78	123					1.4533e-46	2.41951e-46	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322151	55322151	+	Silent	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:55322151T>C	ENST00000314644.2	+	1	369	c.369T>C	c.(367-369)gaT>gaC	p.D123D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTTCCTGGATGCGTGCTTCT	0.478000										HNSCC(20;0.049)			66	317					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908235	164908235	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:164908235C>G	ENST00000475390.1	-	2	827	c.384G>C	c.(382-384)aaG>aaC	p.K128N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.K128N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	128						integral to membrane		p.K128N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GATATAGTCTCTTTAAAATCT	0.353000										HNSCC(40;0.11)			15	15					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101544759	101544759	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:101544759C>A	ENST00000353234.4	-	5	1256	c.1209G>T	c.(1207-1209)ctG>ctT	p.L403L	ANKS6_ENST00000375018.1_Silent_p.L403L|ANKS6_ENST00000375019.2_Silent_p.L102L|ANKS6_ENST00000540940.1_Silent_p.L208L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	403										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CGGGATCATTCAGCAGCATCA	0.458000													19	45					2.48779e-11	3.1806e-11	1	1	0
LGR4	55366	broad.mit.edu	37	11	27389740	27389740	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:27389740C>G	ENST00000379214.4	-	18	2973	c.2530G>C	c.(2530-2532)Gac>Cac	p.D844H	LGR4_ENST00000389858.4_Missense_Mutation_p.D820H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	844			D -> G (in dbSNP:rs34804482).			integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATGCCACAGTCGTAGTAGAAA	0.438000													33	105					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672000			Mis		DLBCL								47	124					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385319	50385319	+	Silent	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:50385319C>G	ENST00000221543.5	+	6	848	c.549C>G	c.(547-549)ctC>ctG	p.L183L	TBC1D17_ENST00000535102.2_Silent_p.L150L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	183						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCCCGCCTCTACCTTGTCT	0.627000													422	323					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135093346	135093346	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:135093346T>A	ENST00000368563.2	-	18	2989	c.2633A>T	c.(2632-2634)cAg>cTg	p.Q878L	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Q471L|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Q906L|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Q748L|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Q878L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	878					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTGGCCTTCTGGCTCCTCTC	0.647000													3	14					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387149	22387149	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:22387149G>T	ENST00000263160.3	+	7	1242	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	269					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGAAAGTCCTGCAAAGCATCC	0.383000													19	61					3.62473e-10	4.46461e-10	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48258340	48258340	+	Splice_Site	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:48258340C>A	ENST00000394747.1	-	4	745	c.395_splice	c.e4-1	p.R132_splice	ABCC11_ENST00000356608.2_Splice_Site_p.R132_splice|ABCC11_ENST00000353782.5_Splice_Site_p.R132_splice|ABCC11_ENST00000394748.1_Splice_Site_p.R132_splice|ABCC11_ENST00000537808.1_Splice_Site_p.R132_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	132						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)				GGCGGTGAAGCCTTGAAAAGA	0.443000													24	9					2.85442e-18	4.13822e-18	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140846786	140846786	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:140846786G>T	ENST00000371372.1	+	7	1172	c.1027G>T	c.(1027-1029)Ggc>Tgc	p.G343C	CACNA1B_ENST00000277551.2_Missense_Mutation_p.G343C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G343C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G343C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G343C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	343					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATCATCATCGGCTCCTTCTT	0.582000													27	68					4.31634e-10	5.29494e-10	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31843898	31843898	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:31843898G>A	ENST00000229729.6	-	3	118	c.98C>T	c.(97-99)aCa>aTa	p.T33I	SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T33I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	33						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GATGACATCTGTGCAGCTTCT	0.547000													26	18					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084154	134084154	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:134084154C>T	ENST00000264360.4	+	4	3646	c.2820C>T	c.(2818-2820)tgC>tgT	p.C940C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	940					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCTCCAATTGCACTGAGGAAT	0.468000													19	31					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927181	53927181	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:53927181G>T	ENST00000371445.3	+	2	668	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	205	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGTGCACTGGGCCCTGAGTA	0.657000													63	107					3.4887e-51	5.87265e-51	1	1	0
BNC2	54796	broad.mit.edu	37	9	16437384	16437384	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:16437384C>G	ENST00000380672.4	-	6	865	c.808G>C	c.(808-810)Gcc>Ccc	p.A270P	BNC2_ENST00000545497.1_Missense_Mutation_p.A175P|BNC2_ENST00000380667.2_Missense_Mutation_p.A203P|BNC2_ENST00000380666.2_Missense_Mutation_p.A270P	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGCCACGGCCTGCCCTTCT	0.478000													18	63					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210010463	210010463	+	Silent	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:210010463C>G	ENST00000491415.2	+	6	1026	c.969C>G	c.(967-969)gcC>gcG	p.A323A		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	323					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGCCAATGCCCAGGTGCTTG	0.517000													12	34					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141753392	141753392	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:141753392C>T	ENST00000522684.1	-	20	1901	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	PTK2_ENST00000538769.1_Missense_Mutation_p.D226N|PTK2_ENST00000535192.1_Missense_Mutation_p.D558N|PTK2_ENST00000395218.2_Missense_Mutation_p.D558N|PTK2_ENST00000519465.1_Missense_Mutation_p.D186N|PTK2_ENST00000519419.1_Missense_Mutation_p.D602N|PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000340930.3_Missense_Mutation_p.D558N|PTK2_ENST00000517887.1_Missense_Mutation_p.D602N|PTK2_ENST00000521059.1_Missense_Mutation_p.D558N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	558	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTTACACAATCATTTGAGGAC	0.343000													24	92					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654839	247654839	+	RNA	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:247654839G>T	ENST00000522351.1	+	0	470							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGTCATGCGCCCACATCTC	0.592000													25	98					9.80776e-20	1.43563e-19	1	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49284482	49284482	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:49284482T>C	ENST00000559471.1	-	18	3528	c.3265A>G	c.(3265-3267)Aaa>Gaa	p.K1089E	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.K1044E	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1089										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GAGTGCTCTTTGTTGAGCGAG	0.532000													20	37					0	0	1	0	0
CAPZA1	829	broad.mit.edu	37	1	113212200	113212200	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:113212200C>G	ENST00000263168.3	+	9	1365	c.693C>G	c.(691-693)atC>atG	p.I231M	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	231					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATTAAAATCATAGAGAATG	0.333000													3	24					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41786466	41786466	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:41786466T>C	ENST00000260386.5	+	1	394	c.341T>C	c.(340-342)cTg>cCg	p.L114P		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	114					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCTTCGCACCTGCAGCAGCCG	0.716000													6	12					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97102497	97102497	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:97102497G>C	ENST00000524981.3	+	15	1993	c.1993G>C	c.(1993-1995)Gct>Cct	p.A665P				Q6ZTY8	CL063_HUMAN		639										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCTAAGTGTGGCTGCGACAAT	0.328000													35	33					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108205829	108205829	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:108205829T>G	ENST00000278616.4	+	55	8529	c.8144T>G	c.(8143-8145)cTt>cGt	p.L2715R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2715R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2715	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGGAGACAGCTTGTTAAGGTG	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	30					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16923619	16923619	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:16923619G>T	ENST00000552788.1	+	17	4351	c.4351G>T	c.(4351-4353)Ggc>Tgc	p.G1451C	NWD1_ENST00000523826.1_Missense_Mutation_p.G1245C|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000339803.6_Missense_Mutation_p.G1316C|NWD1_ENST00000549814.1_Missense_Mutation_p.G1409C|NWD1_ENST00000524140.2_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1451							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGTACGTGGGCTTAAAGGA	0.443000													66	32					1.21826e-31	1.92257e-31	1	1	0
TPTE	7179	broad.mit.edu	37	21	10920083	10920083	+	Splice_Site	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr21:10920083C>A	ENST00000298232.7	-	18	1484		c.e18+1		TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AGAAAACTTACCTGAGAAGGA	0.378000													10	44					3.86212e-05	4.20943e-05	1	1	0
THBS2	7058	broad.mit.edu	37	6	169637753	169637753	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:169637753G>T	ENST00000366787.3	-	9	1516	c.1267C>A	c.(1267-1269)Cgg>Agg	p.R423R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	423	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGCAAGCCCGTGTCTGGATG	0.657000													58	17					1.12612e-26	1.7233e-26	1	1	0
IL27	246778	broad.mit.edu	37	16	28511130	28511130	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:28511130G>T	ENST00000356897.1	-	5	596	c.574C>A	c.(574-576)Ccg>Acg	p.P192T		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	192					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACCTGGGCCGGGCCCTGTAAG	0.667000													12	4					2.80697e-09	3.37505e-09	1	1	0
ABCE1	6059	broad.mit.edu	37	4	146042521	146042521	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:146042521A>G	ENST00000296577.4	+	13	1756	c.1241A>G	c.(1240-1242)cAg>cGg	p.Q414R	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	414	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TATAAGCCACAGAAAATTAGT	0.279000													27	65					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260156	216260156	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:216260156G>A	ENST00000366943.2	-	24	5278	c.4892C>T	c.(4891-4893)tCt>tTt	p.S1631F	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S1631F|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1631	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGGATGGCAGAGGAACCTAG	0.453000										HNSCC(13;0.011)			27	18					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230036	7230036	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:7230036G>T	ENST00000379938.2	+	10	2241	c.1704G>T	c.(1702-1704)ggG>ggT	p.G568G	RREB1_ENST00000349384.6_Silent_p.G568G|RREB1_ENST00000379933.3_Silent_p.G568G|RREB1_ENST00000334984.6_Silent_p.G568G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	568					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGTCCGGGACCCAGCCCC	0.706000													13	23					1.99824e-07	2.31094e-07	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186043964	186043964	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:186043964C>A	ENST00000271588.4	+	53	8460	c.8231C>A	c.(8230-8232)aCt>aAt	p.T2744N	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2744N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2744	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACGATATACTTGTGTAGCA	0.348000													60	31					8.83742e-36	1.40934e-35	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54783794	54783794	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:54783794G>A	ENST00000218436.6	-	8	2742	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	905	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATTGTATTTGGGAATGTGCTT	0.562000													17	7					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352749	44352749	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:44352749A>G	ENST00000324461.7	+	7	2293	c.1996A>G	c.(1996-1998)Aca>Gca	p.T666A	ZNF283_ENST00000588797.1_Missense_Mutation_p.T527A	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTTTCTGTGGACAACTTACTC	0.338000													16	45					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114199055	114199055	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:114199055C>A	ENST00000357077.4	+	16	1799	c.1746C>A	c.(1744-1746)ctC>ctA	p.L582L	ANK2_ENST00000506722.1_Silent_p.L561L|ANK2_ENST00000394537.3_Silent_p.L582L|ANK2_ENST00000264366.6_Silent_p.L582L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	582					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAAACTTCTCTTGCAACGCC	0.398000													23	31					3.99451e-17	5.65578e-17	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436587	248436587	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:248436587C>A	ENST00000318021.2	-	1	551	c.530G>T	c.(529-531)tGc>tTc	p.C177F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	177					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)			GGGGGTCTCGCAGAAGAAGTG	0.547000													74	35					3.76054e-38	6.09327e-38	1	1	0
ATM	472	broad.mit.edu	37	11	108121472	108121472	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:108121472T>A	ENST00000278616.4	+	10	1665	c.1280T>A	c.(1279-1281)tTa>tAa	p.L427*	ATM_ENST00000452508.2_Nonsense_Mutation_p.L427*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	427					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTGCAAGTTTACCTAACTGT	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	43					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2306540	2306540	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr20:2306540G>A	ENST00000381458.5	+	8	1092	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	343					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGTCTGACCTGGGCCCCTCGT	0.547000													7	15					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995567	63995567	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:63995567G>T	ENST00000370658.5	-	3	288	c.255C>A	c.(253-255)ctC>ctA	p.L85L	LGSN_ENST00000370657.4_Silent_p.L85L	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	85					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTACAAACTGGAGGCGATTTT	0.438000													25	34					1.77063e-15	2.41667e-15	1	1	0
HINFP	25988	broad.mit.edu	37	11	118997723	118997723	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:118997723C>T	ENST00000350777.2	+	2	132	c.69C>T	c.(67-69)tcC>tcT	p.S23S	HINFP_ENST00000527354.1_Intron|HINFP_ENST00000527410.1_Silent_p.S23S	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	23					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGTCCTGCTCCTTTGTGTGCT	0.557000													32	79					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24561546	24561546	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr22:24561546C>T	ENST00000398319.2	+	31	5344	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000405822.2_Silent_p.F1574F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1653					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCGGGCCTTCATCCTCACTG	0.602000													21	38					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101165933	101165933	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:101165933C>A	ENST00000370508.5	-	4	525	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GOT1_ENST00000543866.1_Missense_Mutation_p.K145N	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	166					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAATCCTCTCTTCTCTGCAT	0.448000													102	96					1.01443e-56	1.73656e-56	1	1	0
MACF1	23499	broad.mit.edu	37	1	39905146	39905146	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:39905146A>T	ENST00000564288.1	+	72	19198	c.18421A>T	c.(18421-18423)Atc>Ttc	p.I6141F	MACF1_ENST00000545844.1_Missense_Mutation_p.I4082F|MACF1_ENST00000289893.4_Missense_Mutation_p.I4584F|MACF1_ENST00000317713.7_Missense_Mutation_p.I4082F|MACF1_ENST00000372915.3_Missense_Mutation_p.I6040F|MACF1_ENST00000539005.1_Missense_Mutation_p.I3952F|MACF1_ENST00000567887.1_Missense_Mutation_p.I6178F|MACF1_ENST00000361689.2_Missense_Mutation_p.I4082F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6149					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTTCCATCATCAAACAACA	0.438000													6	24					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642021	108642021	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:108642021G>T	ENST00000332082.4	+	10	2417	c.1599G>T	c.(1597-1599)gcG>gcT	p.A533A	WSCD2_ENST00000547525.1_Silent_p.A533A|WSCD2_ENST00000549903.1_Silent_p.A553A|WSCD2_ENST00000261400.3_Silent_p.A553A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	533						integral to membrane		p.A533A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCTATACTGCGGACATGCAGA	0.567000													19	51					3.99206e-14	5.35218e-14	1	1	0
XPO6	23214	broad.mit.edu	37	16	28123277	28123277	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:28123277C>G	ENST00000304658.5	-	17	2702	c.2202G>C	c.(2200-2202)tgG>tgC	p.W734C	XPO6_ENST00000565698.1_Missense_Mutation_p.W720C	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	734					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAAGGTTTGGCCACGGAAGCA	0.587000													10	17					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67170434	67170434	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:67170434A>C	ENST00000269081.4	-	26	4059	c.3150T>G	c.(3148-3150)ttT>ttG	p.F1050L	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1050					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAAAAAGCCAAAAGACCAAA	0.289000													16	29					0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54815043	54815043	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr18:54815043C>A	ENST00000585477.1	+	1	751	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		CCTCCAGCTCCGTCTCAGGAC	0.463000													4	23					1.23904e-05	1.3752e-05	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71494366	71494366	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:71494366C>T	ENST00000296755.7	+	5	5482	c.5184C>T	c.(5182-5184)gcC>gcT	p.A1728A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1728						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTAGAGGCCTCCCCGTCCA	0.483000													58	52					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74017594	74017594	+	Silent	SNP	A	A	G	rs115673223	by1000genomes	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:74017594A>G	ENST00000301607.3	-	9	1219	c.966T>C	c.(964-966)tgT>tgC	p.C322C	EVPL_ENST00000586740.1_Silent_p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	322	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGCAGATACACAGGTTCA	0.721000													3	30					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119905504	119905504	+	Splice_Site	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:119905504C>A	ENST00000464295.1	-	6	1046		c.e6+1		GPR156_ENST00000461057.1_Intron|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGGCCCCTCACCGTCATACTG	0.517000													59	20					2.53126e-37	4.07964e-37	1	1	0
ZNF511	118472	broad.mit.edu	37	10	135165551	135165551	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:135165551G>T	ENST00000368554.4	+	7	668	c.646G>T	c.(646-648)Gac>Tac	p.D216Y	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Missense_Mutation_p.D57Y|PRAP1_ENST00000423766.1_Missense_Mutation_p.D58Y|PRAP1_ENST00000458230.1_Missense_Mutation_p.D57Y			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGAGAAGGACGACCAGCTGGT	0.662000													27	78					2.65835e-16	3.66127e-16	1	1	0
COX10	1352	broad.mit.edu	37	17	14095528	14095528	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:14095528C>A	ENST00000261643.3	+	6	995	c.918C>A	c.(916-918)agC>agA	p.S306R	COX10_ENST00000537334.1_Missense_Mutation_p.S89R|COX10_ENST00000536205.1_Missense_Mutation_p.S114R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	306					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCACGGGCAGCCTCGATGCTG	0.577000													12	196					2.74837e-29	4.27054e-29	1	1	0
ABHD3	171586	broad.mit.edu	37	18	19236944	19236944	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr18:19236944A>G	ENST00000578270.1	-	7	1290	c.350T>C	c.(349-351)aTg>aCg	p.M117T	ABHD3_ENST00000289119.2_Missense_Mutation_p.M312T|ABHD3_ENST00000580981.1_Missense_Mutation_p.M259T			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	312						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GTATCCAAACATGACTGAAGT	0.348000													14	29					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193463	47193463	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr22:47193463G>T	ENST00000337137.4	+	4	749	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A148S|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A148S	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	195						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGAAAGAGAGGCCTCCCGGCT	0.617000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	29					3.5997e-14	4.86924e-14	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66201747	66201747	+	Silent	SNP	G	G	T	rs146343247		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:66201747G>T	ENST00000273854.3	-	16	3355	c.2755C>A	c.(2755-2757)Cga>Aga	p.R919R	EPHA5_ENST00000354839.4_Silent_p.R897R|EPHA5_ENST00000511294.1_Silent_p.R920R|EPHA5_ENST00000432638.2_Silent_p.R756R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	919	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R919*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGCTATTTCGCTCTTTCTGC	0.473000										TSP Lung(17;0.13)			15	29					5.3912e-06	6.05013e-06	1	1	0
TET1	80312	broad.mit.edu	37	10	70405963	70405963	+	Silent	SNP	G	G	T	rs35667415		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:70405963G>T	ENST00000373644.4	+	4	3686	c.3477G>T	c.(3475-3477)cgG>cgT	p.R1159R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1159					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGATCGGCGGAAAAAGAAGC	0.393000													12	35					3.27435e-08	3.86042e-08	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													6	150					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41615561	41615561	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:41615561C>A	ENST00000396942.1	-	2	205	c.122G>T	c.(121-123)tGt>tTt	p.C41F	ANK1_ENST00000352337.4_Missense_Mutation_p.C41F|ANK1_ENST00000379758.2_Missense_Mutation_p.C41F|ANK1_ENST00000396945.1_Missense_Mutation_p.C41F|ANK1_ENST00000347528.4_Missense_Mutation_p.C41F|ANK1_ENST00000289734.7_Missense_Mutation_p.C41F|ANK1_ENST00000265709.8_Missense_Mutation_p.C74F			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	41	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TACCTGGTTACAGGTGTTAAT	0.488000													250	99					9.28055e-144	1.64445e-143	1	1	0
ILK	3611	broad.mit.edu	37	11	6630369	6630369	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:6630369C>T	ENST00000396751.2	+	6	1056	c.600C>T	c.(598-600)aaC>aaT	p.N200N	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Silent_p.N200N|ILK_ENST00000537806.1_Silent_p.N66N|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Silent_p.N200N|ILK_ENST00000528995.1_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	200	PH-like; mediates interaction with TGFB1I1.|Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CGAAGCTCAACGAGAATCACT	0.478000													30	98					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678974	100678974	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:100678974C>A	ENST00000306151.4	+	3	4341	c.4277C>A	c.(4276-4278)cCt>cAt	p.P1426H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1426	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCACCCCTGGGACCACT	0.498000													197	181					5.41105e-105	9.53226e-105	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5242179	5242179	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:5242179G>T	ENST00000274181.7	+	17	2675	c.2537G>T	c.(2536-2538)gGa>gTa	p.G846V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	846	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGTTTCAGGGAAGGAACCCG	0.488000													24	62					9.78485e-24	1.4824e-23	1	1	0
KPNA2	3838	broad.mit.edu	37	17	66039065	66039065	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:66039065G>T	ENST00000537025.2	+	6	1236	c.616G>T	c.(616-618)Gtt>Ttt	p.V206F	KPNA2_ENST00000330459.3_Missense_Mutation_p.V206F			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	206	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTACGGTGCAGTTGACCCACT	0.373000													89	139					4.10022e-50	6.8639e-50	1	1	0
FAT4	79633	broad.mit.edu	37	4	126398543	126398543	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:126398543G>T	ENST00000335110.5	+	12	7316	c.7316G>T	c.(7315-7317)tGc>tTc	p.C2439F	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4197	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAAAGTATGCTTCAGTGAG	0.313000													9	16					0.00621372	0.00644779	1	1	0
PPM1A	5494	broad.mit.edu	37	14	60758115	60758115	+	Splice_Site	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:60758115G>T	ENST00000395076.4	+	5	1492	c.1061_splice	c.e5-1	p.K354_splice	PPM1A_ENST00000325642.3_Splice_Site_p.K427_splice|PPM1A_ENST00000529574.1_Splice_Site_p.K354_splice	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	354					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TTACACTTAGGAGGAATGTTA	0.343000													25	12					4.87955e-14	6.51324e-14	1	1	0
ACAN	176	broad.mit.edu	37	15	89401738	89401738	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:89401738G>A	ENST00000439576.2	+	12	6296	c.5922G>A	c.(5920-5922)atG>atA	p.M1974I	ACAN_ENST00000352105.7_Missense_Mutation_p.M1974I|ACAN_ENST00000561243.1_Missense_Mutation_p.M1974I|ACAN_ENST00000559004.1_Missense_Mutation_p.M1974I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1974					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCAGACATGTCTGGGGAGC	0.542000													16	39					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20543156	20543156	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:20543156C>G	ENST00000504154.1	+	20	2309	c.2057C>G	c.(2056-2058)aCg>aGg	p.T686R	SLIT2_ENST00000273739.5_Missense_Mutation_p.T690R|SLIT2_ENST00000503837.1_Missense_Mutation_p.T682R|SLIT2_ENST00000503823.1_Missense_Mutation_p.T678R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	686	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGAATTGTCACGGGAAATCCT	0.443000													23	66					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150054891	150054891	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:150054891G>C	ENST00000369130.3	+	10	1574	c.1028G>C	c.(1027-1029)aGt>aCt	p.S343T	VPS45_ENST00000535106.1_Missense_Mutation_p.S274T|VPS45_ENST00000369128.5_Missense_Mutation_p.S238T	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	343					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGATTGGTCAGTGAACGGAAT	0.468000													17	137					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582244	55582244	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:55582244G>T	ENST00000361849.3	-	34	5642	c.5248C>A	c.(5248-5250)Ccc>Acc	p.P1750T	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1679T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1745T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1748T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1725T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1708T	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1748	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggagggggaaggggaCAG	0.463000										HNSCC(58;0.16)			6	17					2.0095e-06	2.26349e-06	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51165362	51165362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:51165362G>A	ENST00000293441.1	-	23	6364	c.6346C>T	c.(6346-6348)Cga>Tga	p.R2116*	SHANK1_ENST00000391813.1_Nonsense_Mutation_p.R1503*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.R2107*|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.R2124*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2116	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AACTGGGCTCGGTGCTCCGCC	0.632000													51	47					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133953674	133953674	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:133953674C>A	ENST00000220616.4	+	26	5160	c.5120C>A	c.(5119-5121)cCc>cAc	p.P1707H	TG_ENST00000377869.1_Missense_Mutation_p.P1650H|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1707					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGTACAACCCCATTGTGTTC	0.498000													19	91					1.40151e-16	1.95695e-16	1	1	0
CHD8	57680	broad.mit.edu	37	14	21883993	21883993	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:21883993T>A	ENST00000399982.2	-	5	1854	c.1790A>T	c.(1789-1791)gAa>gTa	p.E597V	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.E597V|CHD8_ENST00000430710.3_Missense_Mutation_p.E318V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	597					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTTCTTCTTCATCATCTGT	0.438000													23	80					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502116	91502116	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:91502116T>C	ENST00000266718.4	-	2	1095	c.641A>G	c.(640-642)aAc>aGc	p.N214S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	214					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GATCTTATTGTTGTCTAAGTA	0.413000													65	55					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9496106	9496106	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:9496106G>T	ENST00000396602.2	+	5	418	c.299G>T	c.(298-300)aGt>aTt	p.S100I	ZNF143_ENST00000530463.1_Missense_Mutation_p.S99I|ZNF143_ENST00000396597.3_Missense_Mutation_p.S69I|ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000396604.1_Missense_Mutation_p.S99I	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	100					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCAGGGGACAGTTTGCGTCTA	0.373000													37	30					9.85913e-13	1.28764e-12	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158142865	158142865	+	Silent	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:158142865A>T	ENST00000296526.7	+	2	460	c.135A>T	c.(133-135)cgA>cgT	p.R45R	GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000264426.9_Silent_p.R45R|GRIA2_ENST00000393815.2_5'UTR	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	45					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGCATTTCGAGTAGGGATGG	0.502000													50	40					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005760	49005760	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:49005760T>G	ENST00000226432.4	+	7	994	c.811T>G	c.(811-813)Tca>Gca	p.S271A	CWH43_ENST00000513409.1_Missense_Mutation_p.S244A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	271					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGGAACAGCTTCAGCTGCGGG	0.502000													23	97					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6058256	6058256	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:6058256G>A	ENST00000261405.5	-	52	8621	c.8367C>T	c.(8365-8367)acC>acT	p.T2789T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2789	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGAGCCATTGGTGCAGTGCA	0.577000													18	28					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822393	137822393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:137822393C>A	ENST00000327532.2	-	2	783	c.421G>T	c.(421-423)Gag>Tag	p.E141*	DZIP1L_ENST00000469243.1_Nonsense_Mutation_p.E141*	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	141						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGGCTCTCCTCCCGCACACCC	0.657000													21	11					1.10513e-12	1.43715e-12	1	1	0
MTPAP	55149	broad.mit.edu	37	10	30653951	30653951	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:30653951G>T	ENST00000358107.4	-	2	230	c.231C>A	c.(229-231)gaC>gaA	p.D77E	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTGGTGCCGCGTCTTTGGCGC	0.637000													13	23					9.16793e-09	1.08937e-08	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189858800	189858800	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:189858800G>T	ENST00000304636.3	+	17	1356	c.1186G>T	c.(1186-1188)Ggc>Tgc	p.G396C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G396C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	396	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGGTAAAGGCGAAATGGT	0.373000													28	16					4.4194e-11	5.62638e-11	1	1	0
FASN	2194	broad.mit.edu	37	17	80046960	80046960	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:80046960G>A	ENST00000306749.2	-	14	2407	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	730	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCGGCGGAGGACGTGCGTGC	0.667000													5	5					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28511131	28511131	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:28511131G>T	ENST00000356897.1	-	5	595	c.573C>A	c.(571-573)ggC>ggA	p.G191G		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	191					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCTGGGCCGGGCCCTGTAAGG	0.667000													12	4					2.80697e-09	3.37505e-09	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15648360	15648360	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:15648360T>A	ENST00000378076.3	-	18	2179	c.1826A>T	c.(1825-1827)gAc>gTc	p.D609V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	609					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTGGATTCGTCCAAACTGTA	0.368000													13	27					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258237	48258237	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:48258237C>A	ENST00000394747.1	-	4	848	c.499G>T	c.(499-501)Gca>Tca	p.A167S	ABCC11_ENST00000356608.2_Missense_Mutation_p.A167S|ABCC11_ENST00000353782.5_Missense_Mutation_p.A167S|ABCC11_ENST00000394748.1_Missense_Mutation_p.A167S|ABCC11_ENST00000537808.1_Missense_Mutation_p.A167S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	167	ABC transmembrane type-1 1.					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)				CCCAGAAGTGCATCGAAAATC	0.507000													28	13					3.99451e-17	5.65578e-17	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111368597	111368597	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:111368597C>T	ENST00000428084.1	-	53	5933	c.5661G>A	c.(5659-5661)gtG>gtA	p.V1887V	DOCK4_ENST00000437633.1_Silent_p.V1878V|DOCK4_ENST00000494651.2_Silent_p.V761V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1878	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGGCACTGGCACCGGCAGGG	0.642000													71	63					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282735	47282735	+	Missense_Mutation	SNP	A	A	C	rs141320931		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:47282735A>C	ENST00000271153.4	+	9	1122	c.1086A>C	c.(1084-1086)aaA>aaC	p.K362N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.K200N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.K348N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.K363N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	362					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATCTGGGCAAAATGACTTATC	0.542000													28	86					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115983482	115983482	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:115983482C>A	ENST00000238256.3	-	1	159	c.42G>T	c.(40-42)tcG>tcT	p.S14S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	14					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CGCCGCTCGGCGAGAGGAAAT	0.622000													10	30					5.01169e-05	5.44281e-05	1	1	0
DLX5	1749	broad.mit.edu	37	7	96651559	96651559	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:96651559G>T	ENST00000222598.4	-	2	951	c.478C>A	c.(478-480)Cag>Aag	p.Q160K	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.Q160K	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	160					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCGAGGTACTGAGTCTTCTGA	0.532000													40	113					1.23713e-20	1.81966e-20	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20738104	20738104	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:20738104G>A	ENST00000404938.2	+	17	2737	c.2085G>A	c.(2083-2085)ggG>ggA	p.G695G	ABCB5_ENST00000258738.6_Silent_p.G250G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	250	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGTTCTGGGGACATTGGCTT	0.303000													6	21					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421358	53421358	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:53421358G>T	ENST00000377942.3	-	1	1417	c.1214C>A	c.(1213-1215)gCg>gAg	p.A405E	PCDH8_ENST00000338862.4_Missense_Mutation_p.A405E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	405	Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCGCGCGCCGCCCCCTCCGG	0.761000													7	2					0.00448238	0.00466722	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112998	248112998	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:248112998T>C	ENST00000357191.3	+	1	839	c.839T>C	c.(838-840)cTc>cCc	p.L280P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACACCATCCTCACCCCAATG	0.488000													35	48					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41488148	41488148	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:41488148C>A	ENST00000314992.5	-	6	638	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	EXD1_ENST00000458580.2_Missense_Mutation_p.D208Y	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	150					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATTCTCTTGTCTTCTAGTATC	0.383000													18	35					3.62473e-10	4.46461e-10	1	1	0
EXTL1	2134	broad.mit.edu	37	1	26349779	26349779	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:26349779G>T	ENST00000374280.3	+	1	1509	c.642G>T	c.(640-642)caG>caT	p.Q214H	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	214					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGGCCAGCTGCGGCAAC	0.692000													10	18					2.27111e-07	2.60662e-07	1	1	0
FBXW5	54461	broad.mit.edu	37	9	139835797	139835797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:139835797C>A	ENST00000325285.3	-	8	1442	c.1363G>T	c.(1363-1365)Gag>Tag	p.E455*	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	455							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCTCACCTCCCGCATGGTC	0.667000													19	50					5.03518e-11	6.35692e-11	1	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388943	39388943	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:39388943C>T	ENST00000411528.2	+	1	229	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	64	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTGCCAGCCCATCTGTGT	0.617000													42	133					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129687	1129687	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:1129687C>T	ENST00000293897.4	+	1	907	c.819C>T	c.(817-819)gcC>gcT	p.A273A	SSTR5_ENST00000397547.2_Silent_p.A273A|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	273					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TCAACCTGGCCGTGGCGCTGC	0.647000													32	11					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989107	9989107	+	Missense_Mutation	SNP	C	C	A	rs34233937		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:9989107C>A	ENST00000412055.1	-	4	1879	c.1750G>T	c.(1750-1752)Ggg>Tgg	p.G584W	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	584						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GCGAGCAACCCTACACCATGC	0.697000													52	20					2.93687e-30	4.58697e-30	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31926476	31926476	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:31926476A>T	ENST00000300870.10	+	4	1115	c.906A>T	c.(904-906)aaA>aaT	p.K302N	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	302					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AATATGATAAAGATCTTAGTC	0.313000													26	7					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712384	247712384	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:247712384G>T	ENST00000366490.3	+	4	411	c.253G>T	c.(253-255)Gtg>Ttg	p.V85L	GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		GCACGAACCCGTGGTCAGATG	0.542000													4	17					0.00024832	0.000265869	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11520893	11520893	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:11520893G>T	ENST00000262442.3	+	5	1138	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R357M|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	357	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCGGGAAGGCTGACTGTG	0.612000													21	133					2.98393e-07	3.39899e-07	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49973632	49973632	+	Missense_Mutation	SNP	C	C	G	rs147032077		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:49973632C>G	ENST00000293350.4	+	17	2480	c.2317C>G	c.(2317-2319)Cgg>Ggg	p.R773G	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R722G|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R608G|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R610G|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	773							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCCGCGGGCCTGGGA	0.692000													7	117					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156531729	156531729	+	Silent	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:156531729T>C	ENST00000307851.4	-	3	1156	c.426A>G	c.(424-426)agA>agG	p.R142R	HAVCR2_ENST00000522593.1_Intron	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	142						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTGAAGTCTCTCTGCCGAG	0.488000													3	16					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777780	27777780	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:27777780C>A	ENST00000333743.6	+	10	1411	c.1157C>A	c.(1156-1158)aCt>aAt	p.T386N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	386				T -> P (in Ref. 1; AAB39369).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T386I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACCACCAACTGCGATGATC	0.428000													10	18					5.50884e-06	6.15933e-06	1	1	0
RHBDF2	79651	broad.mit.edu	37	17	74473273	74473273	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:74473273C>T	ENST00000591885.1	-	8	1459	c.909G>A	c.(907-909)gtG>gtA	p.V303V	RHBDF2_ENST00000389760.4_Silent_p.V303V|RHBDF2_ENST00000313080.4_Silent_p.V332V			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	332					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GAGGGATTTGCACCCCATCGG	0.642000													6	13					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1547465	1547465	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:1547465G>T	ENST00000262319.6	+	5	1065	c.786G>T	c.(784-786)cgG>cgT	p.R262R		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	262						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGCCGGACCGGGCCATGGAGG	0.697000													9	0					0.00829132	0.0085743	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25752504	25752504	+	RNA	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:25752504C>A	ENST00000586223.1	+	0	1339					NR_033892.1																						TCTCAGGATTCCACAGCCCAA	0.562000													30	69					1.21669e-08	1.44007e-08	1	1	0
MRGPRE	116534	broad.mit.edu	37	11	3249661	3249661	+	Silent	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:3249661C>A	ENST00000389832.5	-	2	675	c.369G>T	c.(367-369)ctG>ctT	p.L123L	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L122L			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	122						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGGCGGCCAGGCACTGCT	0.687000													5	22					0.217242	0.217242	1	1	0
TTN	7273	broad.mit.edu	37	2	179455753	179455753	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:179455753G>T	ENST00000589042.1	-	304	60923	c.60699C>A	c.(60697-60699)atC>atA	p.I20233I	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I11293I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I18592I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I11168I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.I17665I|TTN_ENST00000342175.6_Silent_p.I11360I|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18592	Ig-like 111.						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)			GCAGATGTGGGATTTTCAGCT	0.448000													9	157					1.08611e-07	1.26573e-07	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101374895	101374895	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:101374895G>T	ENST00000344327.3	-	2	1229	c.805C>A	c.(805-807)Cac>Aac	p.H269N	TRPC6_ENST00000348423.4_Missense_Mutation_p.H269N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H269N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H269N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	269					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GATCTGGAGTGGCTAAACGAG	0.473000													35	71					1.57019e-19	2.28735e-19	1	1	0
GRM5	2915	broad.mit.edu	37	11	88300621	88300621	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:88300621G>C	ENST00000418177.2	-	8	2597	c.2230C>G	c.(2230-2232)Ctt>Gtt	p.L744V	GRM5_ENST00000305447.4_Missense_Mutation_p.L744V|GRM5_ENST00000455756.2_Missense_Mutation_p.L744V|GRM5_ENST00000305432.5_Missense_Mutation_p.L744V|GRM5_ENST00000393297.1_Missense_Mutation_p.L744V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	744					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGTATCCAAGTGGAGTGACA	0.448000													18	40					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961289	1961289	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr20:1961289C>A	ENST00000217305.2	-	4	670	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	PDYN_ENST00000539905.1_Missense_Mutation_p.A149S|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A149S	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	149					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCAGCTGGGCATCCCTCATC	0.557000													25	220					1.42536e-11	1.83001e-11	1	1	0
HOXD12	3238	broad.mit.edu	37	2	176965007	176965007	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:176965007C>A	ENST00000406506.2	+	1	550	c.478C>A	c.(478-480)Cct>Act	p.P160T	HOXD12_ENST00000404162.2_Missense_Mutation_p.P160T			P35452	HXD12_HUMAN	homeobox D12	160						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCCCTGCGCCCCTGGCTTCAA	0.652000													8	51					9.31168e-06	1.03729e-05	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238305448	238305448	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:238305448G>C	ENST00000295550.4	-	2	465	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	COL6A3_ENST00000392003.2_Missense_Mutation_p.R5G|COL6A3_ENST00000392004.3_Missense_Mutation_p.R5G|COL6A3_ENST00000347401.3_Missense_Mutation_p.R5G|COL6A3_ENST00000346358.4_Missense_Mutation_p.R5G|COL6A3_ENST00000353578.4_Missense_Mutation_p.R5G|COL6A3_ENST00000472056.1_Missense_Mutation_p.R5G|COL6A3_ENST00000409809.1_Missense_Mutation_p.R5G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	5					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAAGTGCCGATGTTTCCTC	0.438000													3	52					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74472972	74472972	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:74472972C>A	ENST00000591885.1	-	9	1605	c.1055G>T	c.(1054-1056)aGc>aTc	p.S352I	RHBDF2_ENST00000389760.4_Missense_Mutation_p.S352I|RHBDF2_ENST00000313080.4_Missense_Mutation_p.S381I			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	381					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCGGCGGTAGCTGCGGTTCAG	0.662000													14	22					2.31682e-05	2.54347e-05	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35970046	35970046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:35970046C>T	ENST00000297866.5	+	6	1078	c.1012C>T	c.(1012-1014)Caa>Taa	p.Q338*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	338										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAACCTTATCAAAAGACTGT	0.264000													22	13					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75262736	75262736	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:75262736T>A	ENST00000220822.7	+	1	120	c.40T>A	c.(40-42)Ttg>Atg	p.L14M	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	14						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAGCCCGCCCTTGAGGGCGGA	0.632000													36	44					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183720996	183720996	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:183720996C>T	ENST00000511685.1	+	28	7715	c.7592C>T	c.(7591-7593)gCc>gTc	p.A2531V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2531V					teneurin transmembrane protein 3																		CTCAACAACGCCTTCTACCTG	0.622000													4	24					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243756	121243756	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:121243756A>T	ENST00000297848.3	+	19	2518	c.2248A>T	c.(2248-2250)Agc>Tgc	p.S750C	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S655C|COL14A1_ENST00000309791.4_Missense_Mutation_p.S750C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	750	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTACTTCTAGCCTGCGGGT	0.428000													13	52					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15584448	15584448	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:15584448C>A	ENST00000342526.3	-	3	527	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	120					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCTAAGAAGGCTGAATACCAA	0.403000													48	121					1.11015e-26	1.70749e-26	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3432470	3432470	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:3432470G>C	ENST00000520002.1	-	11	1899	c.1344C>G	c.(1342-1344)gaC>gaG	p.D448E	CSMD1_ENST00000542608.1_Missense_Mutation_p.D447E|CSMD1_ENST00000539096.1_Missense_Mutation_p.D447E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D447E|CSMD1_ENST00000400186.3_Missense_Mutation_p.D448E|CSMD1_ENST00000602557.1_Missense_Mutation_p.D448E|CSMD1_ENST00000602723.1_Missense_Mutation_p.D448E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	448	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCTTACCTTGTCCGGGTCGG	0.517000													20	49					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044864	43044864	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:43044864G>A	ENST00000267890.6	-	14	2688	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	860					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAACATGTGGGTCAATGTCTC	0.383000													31	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82435124	82435124	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:82435124G>T	ENST00000333891.8	-	21	15150	c.14813C>A	c.(14812-14814)cCt>cAt	p.P4938H		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4820	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTTCTGCAGGCCGGTGATT	0.507000													11	8					0.000151284	0.000163129	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52366327	52366327	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:52366327C>A	ENST00000420323.2	+	8	1464	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	401	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCCTCTGACGGCCAGCATG	0.602000													24	31					5.35356e-11	6.73082e-11	1	1	0
RGS1	5996	broad.mit.edu	37	1	192548281	192548281	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:192548281C>T	ENST00000367459.3	+	5	525	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	153	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATTGACTTCCGCACTCGAG	0.333000													12	56					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144889152	144889152	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:144889152C>A	ENST00000356994.2	-	17	2216	c.2210G>T	c.(2209-2211)gGc>gTc	p.G737V	SCRIB_ENST00000377533.3_Missense_Mutation_p.G656V|SCRIB_ENST00000320476.3_Missense_Mutation_p.G737V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	737	Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GATGCCCAGGCCCCCAGTCTG	0.642000													39	20					2.52991e-16	3.51634e-16	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982582	7982582	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:7982582C>T	ENST00000328600.2	-	2	738	c.577G>A	c.(577-579)Ggt>Agt	p.G193S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	193	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACAGAGTACCGGTGGCCCAG	0.532000													23	26					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350935	70350935	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:70350935T>C	ENST00000305107.6	-	5	1347	c.1301A>G	c.(1300-1302)aAt>aGt	p.N434S	UGT2B4_ENST00000381096.3_Missense_Mutation_p.N298S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	434					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAAGGATCATTAATTACTGT	0.378000													42	68					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132630558	132630558	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:132630558C>T	ENST00000315480.4	+	11	1123	c.965C>T	c.(964-966)tCt>tTt	p.S322F	USP20_ENST00000358355.1_Missense_Mutation_p.S322F|USP20_ENST00000372429.3_Missense_Mutation_p.S322F			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	322					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGAGCCATCTCTGAGAAGGAG	0.657000													26	75					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95677174	95677174	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:95677174C>G	ENST00000433389.2	+	8	965	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	ESRP1_ENST00000454170.2_Missense_Mutation_p.L259V|ESRP1_ENST00000358397.5_Missense_Mutation_p.L259V|ESRP1_ENST00000423620.2_Missense_Mutation_p.L259V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	259	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGCACTTTGTCTGAATGCTCA	0.433000													32	136					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14712431	14712431	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:14712431G>T	ENST00000383794.3	+	11	1207	c.1134G>T	c.(1132-1134)agG>agT	p.R378S	CCDC174_ENST00000303688.7_Missense_Mutation_p.R302S|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		GGTCGAAGAGGCAGTCAGATC	0.413000													11	27					6.31663e-08	7.38972e-08	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755903	140755903	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:140755903G>T	ENST00000517434.1	+	1	2253	c.2253G>T	c.(2251-2253)caG>caT	p.Q751H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCCTGCAGACCTATTCCC	0.592000													38	108					7.53189e-24	1.14682e-23	1	1	0
UMOD	7369	broad.mit.edu	37	16	20359826	20359826	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:20359826G>T	ENST00000396134.2	-	4	1019	c.896C>A	c.(895-897)gCc>gAc	p.A299D	UMOD_ENST00000302509.4_Missense_Mutation_p.A266D|UMOD_ENST00000570689.1_Missense_Mutation_p.A266D|UMOD_ENST00000424589.1_Missense_Mutation_p.A299D|UMOD_ENST00000396138.4_Missense_Mutation_p.A315D|UMOD_ENST00000396142.2_Missense_Mutation_p.A266D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	266					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCCGGCACAGGCCTTCACCTG	0.677000													14	6					2.31682e-05	2.54347e-05	1	1	0
C2orf78	388960	broad.mit.edu	37	2	74043578	74043578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:74043578C>A	ENST00000409561.1	+	3	2349	c.2228C>A	c.(2227-2229)tCa>tAa	p.S743*		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	743										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCTAGCCTCACGTAGGCCT	0.537000													153	250					1.05532e-84	1.84834e-84	1	1	0
C11orf80	79703	broad.mit.edu	37	11	66610492	66610492	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:66610492C>A	ENST00000360962.4	+	16	1927	c.1920C>A	c.(1918-1920)caC>caA	p.H640Q	C11orf80_ENST00000346672.4_Missense_Mutation_p.H449Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.H448Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.H474Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.H422Q|C11orf80_ENST00000527634.1_Missense_Mutation_p.H423Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	485										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCGAGGCTCACGGCAGGGCCC	0.766000													4	7					0.00024832	0.000265869	1	1	0
COL27A1	85301	broad.mit.edu	37	9	117029830	117029830	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:117029830G>T	ENST00000356083.3	+	34	3885	c.3494G>T	c.(3493-3495)gGg>gTg	p.G1165V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1165	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGGAAGCCGGGATGAAGGTG	0.557000													6	26					0.0381472	0.0391817	1	1	0
CDH16	1014	broad.mit.edu	37	16	66951552	66951552	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr16:66951552A>T	ENST00000299752.4	-	3	315	c.122T>A	c.(121-123)cTg>cAg	p.L41Q	CDH16_ENST00000568632.1_Missense_Mutation_p.L41Q|CDH16_ENST00000565796.1_Missense_Mutation_p.L41Q|CDH16_ENST00000394055.3_Missense_Mutation_p.L41Q|CDH16_ENST00000570262.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	41	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCTTGGTCAGGTATAAAGG	0.577000													14	11					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305253	44305253	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:44305253C>A	ENST00000264664.4	-	3	585	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	157					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ATCCATTTTCCTCTATCCTCT	0.373000													11	126					1.02788e-11	1.32531e-11	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121659224	121659224	+	Silent	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:121659224G>T	ENST00000393386.2	+	13	5301	c.4890G>T	c.(4888-4890)ggG>ggT	p.G1630G	PTPRZ1_ENST00000449182.1_Silent_p.G770G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1630					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGCTGAGGGGTTGGAATCCG	0.438000													29	29					8.16721e-17	1.14568e-16	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212682	10212682	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:10212682G>T	ENST00000418404.3	-	34	5201	c.5038C>A	c.(5038-5040)Cgc>Agc	p.R1680S	MYH13_ENST00000570743.1_Missense_Mutation_p.R1680S|MYH13_ENST00000252172.4_Missense_Mutation_p.R1680S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1680					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATTCCTGCGCTCCACGATG	0.642000													5	29					0.000602214	0.000640249	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	13					0.150653	0.151654	1	1	0
RAB6C	84084	broad.mit.edu	37	2	130738129	130738129	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:130738129G>A	ENST00000410061.2	+	1	895	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	147					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAGCCAAAGGGCTGAATGTTA	0.453000													88	53					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903723	119903723	+	Silent	SNP	G	G	T	rs140344311	byFrequency	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:119903723G>T	ENST00000313400.4	-	4	1150	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	ASTN2_ENST00000373996.3_Silent_p.S350S|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	350						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTGCATCAGGGACTCCACTG	0.597000													31	31					6.70999e-13	8.83968e-13	1	1	0
RFX1	5989	broad.mit.edu	37	19	14073934	14073934	+	Splice_Site	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:14073934C>G	ENST00000254325.4	-	19	2958	c.2724_splice	c.e19+1	p.E908_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	908	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E908D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCTCGCGCACCTCGCCCATGA	0.672000													9	24					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396435	154396435	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:154396435C>A	ENST00000435029.4	+	1	3176	c.3016C>A	c.(3016-3018)Ctt>Att	p.L1006I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1006	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGAAACATCTTCCTAATGA	0.423000													5	121					0.00116845	0.0012379	1	1	0
RNF6	6049	broad.mit.edu	37	13	26789730	26789730	+	Splice_Site	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:26789730C>A	ENST00000381588.4	-	5	1042		c.e5-1		RNF6_ENST00000399762.2_Splice_Site|RNF6_ENST00000468480.1_Splice_Site|RNF6_ENST00000381570.3_Splice_Site|RNF6_ENST00000346166.3_Splice_Site	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6						negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTTCTGAGTCTAGAAAGCAA	0.358000													22	9					6.44725e-10	7.87709e-10	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54307658	54307658	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:54307658A>T	ENST00000545554.1	+	1	2558	c.2558A>T	c.(2557-2559)tAc>tTc	p.Y853F	UNC13C_ENST00000260323.11_Missense_Mutation_p.Y853F|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y853F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	853					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTGATGTCTACACGGAGCCC	0.418000													8	29					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588799	33588799	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr20:33588799G>A	ENST00000262873.7	+	39	5531	c.5439G>A	c.(5437-5439)atG>atA	p.M1813I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1771						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGCCATGATGGCCGAGG	0.642000													28	130					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101611974	101611974	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:101611974A>T	ENST00000335681.5	+	21	2690	c.2405A>T	c.(2404-2406)cAg>cTg	p.Q802L	NPAS2_ENST00000542504.1_Missense_Mutation_p.Q867L|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	802					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACAGCCCCAGCCCCTACGT	0.627000													19	55					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1073165	1073165	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:1073165C>G	ENST00000313093.2	+	3	670	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G	HMHA1_ENST00000539243.2_Missense_Mutation_p.R163G|HMHA1_ENST00000586866.1_Missense_Mutation_p.R151G|HMHA1_ENST00000590214.1_Missense_Mutation_p.R174G|HMHA1_ENST00000592335.1_Silent_p.A27A|HMHA1_ENST00000543365.1_Missense_Mutation_p.R30G|HMHA1_ENST00000536472.1_5'UTR	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	147					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGCCCGCCGCCCGCGGGC	0.647000													4	100					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21785926	21785926	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:21785926A>G	ENST00000206660.6	+	10	1223	c.1223A>G	c.(1222-1224)cAg>cGg	p.Q408R	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q50R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q381R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q381R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q408R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	408					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCTACAGCAGCAAGTCTCT	0.537000													8	6					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35273928	35273928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:35273928C>A	ENST00000356321.4	-	3	2052	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTGAGACCTCGTATTTTTGA	0.398000													41	126					7.77372e-23	1.16031e-22	1	1	0
FANK1	92565	broad.mit.edu	37	10	127668775	127668775	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:127668775T>A	ENST00000368695.1	+	2	163	c.41T>A	c.(40-42)gTg>gAg	p.V14E	FANK1_ENST00000368689.1_Missense_Mutation_p.V14E|FANK1_ENST00000368693.1_Missense_Mutation_p.V20E|FANK1_ENST00000449042.2_Missense_Mutation_p.V14E	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	20	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTGGGCAAAGTGACTCATCAC	0.453000													15	33					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162112	1162112	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr20:1162112G>T	ENST00000381894.3	-	2	822	c.151C>A	c.(151-153)Cca>Aca	p.P51T	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	51						integral to membrane	protein binding										GGGGCCACTGGGCCCAGGGGA	0.612000													55	37					5.80444e-35	9.20808e-35	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130761701	130761701	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:130761701G>C	ENST00000392429.1	+	2	2512	c.134G>C	c.(133-135)cGg>cCg	p.R45P	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R45P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R45P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	45						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CGCCGGCCCCGGGCAGATGTT	0.512000													117	37					0	0	1	0	0
GPR3	2827	broad.mit.edu	37	1	27720810	27720810	+	Silent	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:27720810C>T	ENST00000374024.3	+	2	607	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	170					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGGCTGCTGCCTGTGCT	0.557000													66	107					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851642	133851642	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:133851642G>T	ENST00000395386.2	+	18	2501	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	PHF20L1_ENST00000395390.2_Missense_Mutation_p.W709C|PHF20L1_ENST00000220847.7_Missense_Mutation_p.W121C|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	734							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTCAGAGGTGGAGTGCAAAAT	0.373000													29	118					3.76114e-14	5.065e-14	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190400	9190400	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:9190400G>A	ENST00000382496.5	-	11	1917	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	418	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGATGATGTGGACGAGCGCT	0.512000													35	46					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171471924	171471924	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:171471924C>A	ENST00000176763.5	-	19	3212	c.2869G>T	c.(2869-2871)Gcc>Tcc	p.A957S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	957							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAACTTGGCGGCCTTGCTT	0.597000													61	45					1.7104e-27	2.64414e-27	1	1	0
PSPC1	55269	broad.mit.edu	37	13	20315738	20315738	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr13:20315738T>C	ENST00000338910.4	-	5	1178	c.1019A>G	c.(1018-1020)cAa>cGa	p.Q340R		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	340	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTGCAACTCTTGGTTTCTGAG	0.328000													37	25					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905881	57905881	+	Silent	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:57905881G>A	ENST00000262644.4	-	1	522	c.264C>T	c.(262-264)aaC>aaT	p.N88N		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	88						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CGTGGAGGACGTTGCTCTCGC	0.667000													47	110					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290857	119290857	+	Missense_Mutation	SNP	C	C	A	rs142564004		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:119290857C>A	ENST00000284240.5	-	3	1316	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.A76S|THY1_ENST00000528522.1_Missense_Mutation_p.A93S	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562000													23	49					1.85244e-09	2.24516e-09	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248844785	248844785	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:248844785A>G	ENST00000342623.3	-	1	844	c.821T>C	c.(820-822)cTg>cCg	p.L274P		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGTGTATGTCAGAGCAATCAC	0.423000													21	77					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144990707	144990707	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:144990707C>G	ENST00000322810.4	-	32	13862	c.13693G>C	c.(13693-13695)Gtg>Ctg	p.V4565L	PLEC_ENST00000345136.3_Missense_Mutation_p.V4428L|PLEC_ENST00000527096.1_Missense_Mutation_p.V4451L|PLEC_ENST00000354589.3_Missense_Mutation_p.V4428L|PLEC_ENST00000398774.2_Missense_Mutation_p.V4396L|PLEC_ENST00000436759.2_Missense_Mutation_p.V4455L|PLEC_ENST00000354958.2_Missense_Mutation_p.V4406L|PLEC_ENST00000356346.3_Missense_Mutation_p.V4414L|PLEC_ENST00000357649.2_Missense_Mutation_p.V4432L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4565	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAGGCGCCCACGTCACGCAGC	0.687000													114	61					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49717402	49717402	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:49717402G>T	ENST00000551245.1	+	2	122	c.11G>T	c.(10-12)cGg>cTg	p.R4L	TROAP_ENST00000380327.5_Missense_Mutation_p.R4L|TROAP_ENST00000257909.3_Missense_Mutation_p.R4L|TROAP_ENST00000548311.1_Missense_Mutation_p.R4L|TROAP_ENST00000549534.1_Missense_Mutation_p.R4L|TROAP_ENST00000549275.1_Missense_Mutation_p.R4L|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.R4L			Q12815	TROAP_HUMAN	trophinin associated protein	4					cell adhesion	cytoplasm		p.R4L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATGACCACCCGGCAAGCCACG	0.557000													48	159					7.10663e-31	1.1157e-30	1	1	0
POLA1	5422	broad.mit.edu	37	X	24741379	24741379	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:24741379G>A	ENST00000379068.3	+	11	1238	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	POLA1_ENST00000379059.3_Missense_Mutation_p.E393K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	393					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CCTTCCCCGTGAAATGGTAAA	0.428000													21	10					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70990017	70990017	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:70990017A>T	ENST00000334414.6	-	5	1114	c.1070T>A	c.(1069-1071)gTc>gAc	p.V357D	PTPRB_ENST00000451516.2_Missense_Mutation_p.V139D|PTPRB_ENST00000551525.1_Missense_Mutation_p.V356D|PTPRB_ENST00000550358.1_Missense_Mutation_p.V357D|PTPRB_ENST00000261266.5_Missense_Mutation_p.V139D|PTPRB_ENST00000550857.1_Missense_Mutation_p.V139D|PTPRB_ENST00000538708.1_Missense_Mutation_p.V139D|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	139	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATATGAGGTGACTTTTCCGGA	0.398000													21	22					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889552	147889552	+	Silent	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:147889552A>T	ENST00000360693.3	-	6	681	c.543T>A	c.(541-543)tcT>tcA	p.S181S	HTR4_ENST00000520514.1_Silent_p.S181S|HTR4_ENST00000521530.1_Silent_p.S181S|HTR4_ENST00000362016.2_Silent_p.S195S|HTR4_ENST00000354217.2_Silent_p.S181S|HTR4_ENST00000314512.6_Silent_p.S181S|HTR4_ENST00000521735.1_Silent_p.S181S|HTR4_ENST00000517929.1_Silent_p.S181S|HTR4_ENST00000377888.3_Silent_p.S181S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	181					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CACAGTACGTAGAGTTAGAGT	0.458000													6	28					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234172699	234172699	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:234172699T>A	ENST00000392017.4	+	4	634	c.377T>A	c.(376-378)aTg>aAg	p.M126K	ATG16L1_ENST00000392020.4_Missense_Mutation_p.M126K|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.M126K|ATG16L1_ENST00000373525.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	126					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GAGATGCAGATGAATGAAGCA	0.468000													76	46					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169857	57169857	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:57169857G>T	ENST00000371244.4	+	7	1068	c.1002G>T	c.(1000-1002)atG>atT	p.M334I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	334					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GGAGAATAATGAACCAAGCCA	0.438000													26	44					3.1745e-13	4.20032e-13	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092701	147092701	+	Splice_Site	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:147092701G>T	ENST00000361727.3	+	10	2015	c.1498_splice	c.e10-1	p.G500_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	500	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTTTCACAGGTTTTCTGAAC	0.408000										HNSCC(39;0.1)			76	68					9.0989e-53	1.54021e-52	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535643	27535643	+	RNA	SNP	A	A	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:27535643A>C	ENST00000574842.1	+	0	255																											GGTCCGGATAACATGAGAAAT	0.502000													53	107					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53950532	53950532	+	RNA	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:53950532C>T	ENST00000454407.1	+	0	464							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGGCTTTTTCTCAGGTGAGA	0.448000													43	54					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31479272	31479272	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr22:31479272G>A	ENST00000333137.7	+	2	246	c.28G>A	c.(28-30)Gat>Aat	p.D10N	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.D10N|SMTN_ENST00000358743.1_Missense_Mutation_p.D10N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	10					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGCTGGGCTGGATGAGGGAGC	0.622000													4	11					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121773678	121773678	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:121773678C>T	ENST00000393376.1	-	1	198	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	AASS_ENST00000417368.2_Missense_Mutation_p.A35T|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	35	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCTCCCAGGCGTTCACATCC	0.582000													6	138					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126059501	126059501	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr8:126059501C>A	ENST00000318410.7	-	20	2801	c.2452G>T	c.(2452-2454)Gta>Tta	p.V818L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.V670L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	818					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATAAACGTTACAGACTCATCC	0.433000													56	35					2.69441e-44	4.46124e-44	1	1	0
PSG9	5678	broad.mit.edu	37	19	43772179	43772179	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:43772179G>C	ENST00000244293.7	-	2	253	c.187C>G	c.(187-189)Cct>Gct	p.P63A	PSG9_ENST00000291752.5_Missense_Mutation_p.P63A|PSG9_ENST00000443718.3_Missense_Mutation_p.P63A|PSG9_ENST00000596730.1_Missense_Mutation_p.P63A|PSG9_ENST00000418820.2_Missense_Mutation_p.P63A|PSG9_ENST00000593948.1_Missense_Mutation_p.P63A|PSG9_ENST00000270077.3_Missense_Mutation_p.P63A			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	63	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGTAGCCAGGAAGATTCTGG	0.458000													64	154					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124655	20124655	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:20124655G>C	ENST00000541730.1	-	7	1039	c.444C>G	c.(442-444)taC>taG	p.Y148*	MBOAT1_ENST00000324607.7_Nonsense_Mutation_p.Y297*			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	297					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCATGCAAAGTAATACTTGG	0.443000													16	74					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17250924	17250924	+	Missense_Mutation	SNP	C	C	T	rs149249750	byFrequency	TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:17250924C>T	ENST00000375541.5	+	3	370	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	101					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCAGAGCCGTGCCGAGCG	0.662000													6	45					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102677582	102677582	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr9:102677582A>G	ENST00000259400.6	+	2	197	c.61A>G	c.(61-63)Att>Gtt	p.I21V	STX17_ENST00000525640.1_Missense_Mutation_p.I21V|STX17_ENST00000534052.1_Missense_Mutation_p.I21V|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	21					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCAGAAATTCATTAAGATAGT	0.373000													17	46					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987199	36987199	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:36987199C>T	ENST00000518149.1	-	3	1005	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	NKX2-1_ENST00000522719.2_Missense_Mutation_p.G134S|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G134S|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G164S			P43699	NKX21_HUMAN	NK2 homeobox 1	134					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ATGTTCATGCCGCTCGCCGGG	0.706000			A		NSCLC								14	120					0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773087	68773087	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:68773087G>A	ENST00000309099.6	-	3	1073	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	MRGPRF_ENST00000441623.1_Missense_Mutation_p.R231C	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	231						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCGCTGGCGCCGTCGGGCC	0.632000													4	10					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41959743	41959743	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:41959743G>A	ENST00000269095.4	-	6	894	c.590C>T	c.(589-591)cCc>cTc	p.P197L	MPP2_ENST00000377184.3_Missense_Mutation_p.P214L|MPP2_ENST00000518766.1_Missense_Mutation_p.P242L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.P221L|MPP2_ENST00000520305.1_Missense_Mutation_p.P58L|MPP2_ENST00000536246.1_Missense_Mutation_p.P186L|MPP2_ENST00000523501.1_Missense_Mutation_p.P186L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	221	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGTGCGCGGGGGTCACTGCC	0.647000													69	76					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128936168	128936168	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:128936168G>A	ENST00000522781.1	-	6	1928	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	FAM196A_ENST00000424811.2_Missense_Mutation_p.S434L|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	458										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTGGGAGTTGAGGAGTAAGT	0.463000													43	121					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													4	94					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539131	56539131	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:56539131C>A	ENST00000390649.3	+	7	1532	c.1532C>A	c.(1531-1533)aCc>aAc	p.T511N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	511	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CATCAGCTCACCCCTCGAGGC	0.607000													20	44					2.98393e-07	3.39899e-07	1	1	0
CFHR2	3080	broad.mit.edu	37	1	196920060	196920060	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:196920060A>T	ENST00000367415.4	+	3	446	c.332A>T	c.(331-333)cAa>cTa	p.Q111L	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.Q111L	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	111	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GATACTGTACAAATTATTTGC	0.398000													19	113					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308689	27308689	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:27308689G>T	ENST00000317338.12	-	2	852	c.424C>A	c.(424-426)Ccg>Acg	p.P142T	SEZ6_ENST00000360295.9_Missense_Mutation_p.P142T|SEZ6_ENST00000442608.3_Missense_Mutation_p.P142T|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.P142T			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	142	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCTGACTCCGGACTCCAGGGT	0.652000													3	23					0.115264	0.117198	1	1	0
CSN3	1448	broad.mit.edu	37	4	71114937	71114937	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:71114937C>A	ENST00000304954.3	+	4	396	c.310C>A	c.(310-312)Cca>Aca	p.P104T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	104						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATAGCCACCCACCCACTGT	0.448000													7	23					3.09899e-07	3.51683e-07	1	1	0
RELN	5649	broad.mit.edu	37	7	103183253	103183253	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr7:103183253C>T	ENST00000428762.1	-	43	6755	c.6596G>A	c.(6595-6597)aGt>aAt	p.S2199N	RELN_ENST00000343529.5_Missense_Mutation_p.S2199N|RELN_ENST00000424685.2_Missense_Mutation_p.S2199N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2199					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGTTTCCACTAGAAAGGAT	0.378000													32	36					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51057013	51057013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr18:51057013C>A	ENST00000442544.2	+	29	4950	c.4334C>A	c.(4333-4335)tCa>tAa	p.S1445*	RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1445					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCACAGGCTCAGCCTTTTAA	0.423000													14	51					6.94344e-10	8.44925e-10	1	1	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110036	37110036	+	RNA	SNP	A	A	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr15:37110036A>T	ENST00000430593.3	-	0	624					NR_027320.1																						CTTCTTGAACAGAAATTGGTC	0.413000													3	18					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055688	167055688	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:167055688C>A	ENST00000375387.4	-	27	5804	c.5464G>T	c.(5464-5466)Gtc>Ttc	p.V1822F	SCN9A_ENST00000409672.1_Missense_Mutation_p.V1810F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.V1821F|SCN9A_ENST00000303354.6_Missense_Mutation_p.V1822F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1821						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGAGCTGGACTTTGTTGGGT	0.463000													20	71					2.21704e-12	2.87078e-12	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767550	31767550	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:31767550A>G	ENST00000240587.4	-	2	3476	c.3149T>C	c.(3148-3150)tTt>tCt	p.F1050S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1050					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTGCTGGCAAAGGTCCGATT	0.488000													14	17					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26697430	26697430	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:26697430C>T	ENST00000272371.2	-	26	3365	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	OTOF_ENST00000402415.3_Missense_Mutation_p.R390H|OTOF_ENST00000338581.6_Missense_Mutation_p.R333H|OTOF_ENST00000403946.3_Missense_Mutation_p.R1080H|OTOF_ENST00000339598.3_Missense_Mutation_p.R333H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1080					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTTGCCACGGTAGATCTG	0.647000													31	37					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48653361	48653361	+	Silent	SNP	C	C	G			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:48653361C>G	ENST00000263274.7	-	8	1100	c.681G>C	c.(679-681)acG>acC	p.T227T	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Silent_p.T196T|LIG1_ENST00000536218.1_Silent_p.T159T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	227					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCTGCTGAGCGTCTTGGGAG	0.617000								Nucleotide excision repair (NER)					46	39					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117062657	117062657	+	Missense_Mutation	SNP	C	C	A	rs139484942		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr11:117062657C>A	ENST00000324225.4	+	19	2330	c.1799C>A	c.(1798-1800)cCg>cAg	p.P600Q	SIDT2_ENST00000431081.2_Missense_Mutation_p.P597Q	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	600						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;0.000219)|all cancers(92;0.00144)		AAGCGGCACCCGGACATCAAC	0.587000													44	112					7.70917e-36	1.23591e-35	1	1	0
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)ctfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													7	1551	---	---	---	---					
AC144450.1	0	broad.mit.edu	37	2	1591672	1591688	+	RNA	DEL	CCTGTCCCTGTCCCCAT	CCTGTCCCTGTCCCCAT	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:1591672_1591688delCCTGTCCCTGTCCCCAT	ENST00000438247.1	-	0	515																											ctgtcctcaccctgtccctgtccccatcctgtccctc	0.659													3	3	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25972718	25972718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:25972718delC	ENST00000435504.4	-	12	2000	c.1707delG	c.(1705-1707)aafs	p.K569fs	ASXL2_ENST00000404843.1_Frame_Shift_Del_p.K309fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.K309fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.K541fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGGAAGACTTCCTCTTGA	0.542													25	90	---	---	---	---					
ANKRD20A8P	729171	broad.mit.edu	37	2	95484679	95484682	+	RNA	DEL	AAGT	AAGT	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr2:95484679_95484682delAAGT	ENST00000432432.2	-	0	1265					NR_040113.1																						CCTTTAATAAAAGTAAGATGAATA	0.250													3	5	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12061819	12061819	+	RNA	DEL	C	C	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:12061819delC	ENST00000432424.2	+	0	549							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTGTCCTCTTCCCCCCCACCC	0.463													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	3	---	---	---	---					
CWH43	80157	broad.mit.edu	37	4	49005747	49005752	+	Splice_Site	DEL	AACAGG	AACAGG	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr4:49005747_49005752delAACAGG	ENST00000226432.4	+	7	985_986	c.802_splice	c.e7-1	p.268_splice	CWH43_ENST00000513409.1_Splice_Site_p.241_splice	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	268					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCTCTCACAAACAGGAACAGCTTCA	0.500													21	143	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	305	---	---	---	---					
HIST1H4B	8366	broad.mit.edu	37	6	26027373	26027373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr6:26027373delC	ENST00000377364.3	-	1	107	c.108delG	c.(106-108)cgfs	p.R37fs		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	37					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGCAAGGCGCCGAATGGCCG	0.557													18	93	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51816610	51816610	+	RNA	DEL	T	T	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr10:51816610delT	ENST00000456967.1	-	0	1570					NR_038275.1																						ATGCTACGGCTTTTTCTTTGA	0.418													28	110	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)del	p.E168del		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.690													5	7	---	---	---	---					
PPP1R36	145376	broad.mit.edu	37	14	65016782	65016786	+	Splice_Site	DEL	GATGT	GATGT	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr14:65016782_65016786delGATGT	ENST00000298705.1	+	1	163_165	c.69_splice	c.e1+1	p.23_splice		NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	23																	TTACTTGATGGATGTAAGTGCAGCC	0.688													4	2	---	---	---	---					
BHLHA9	727857	broad.mit.edu	37	17	1173865	1173866	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:1173865_1173866delGG	ENST00000391429.1	+	1	13_14	c.8_9delGG	c.(7-9)cfs	p.R3fs		NM_001164405.1	NP_001157877.1	Q7RTU4	BHA09_HUMAN	basic helix-loop-helix family, member a9	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										GCCATGCTGCGGGGCGCGCCAG	0.772													2	4	---	---	---	---					
OR1A1	8383	broad.mit.edu	37	17	3119607	3119607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:3119607delG	ENST00000304094.1	+	1	693	c.693delG	c.(691-693)aafs	p.K231fs		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCCACCAAGGGCGTGCTCA	0.488													37	123	---	---	---	---					
DHRS7C	201140	broad.mit.edu	37	17	9694597	9694597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:9694597delC	ENST00000330255.4	-	1	17	c.5delG	c.(4-6)gafs	p.G2fs	DHRS7C_ENST00000571134.1_Frame_Shift_Del_p.G2fs	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	2						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GGCCATGACTCCCATCTTGTT	0.582													10	18	---	---	---	---					
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs11403368		TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14					NR_047479.1																						accctgatctatcatcgggagg	0.550													7	26	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1220635	1220636	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:1220635_1220636insT	ENST00000326873.7	+	5	1826_1827	c.653_654insT	c.(652-654)gttfs	p.V218fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	218	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCCCGGCTTTCCAGCCGC	0.718		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			24	1	---	---	---	---					
NLRP12	91662	broad.mit.edu	37	19	54299173	54299174	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr19:54299173_54299174insT	ENST00000324134.6	-	9	3205_3206	c.3037_3038insA	c.(3037-3039)aggfs	p.R1013fs	NLRP12_ENST00000351894.4_Frame_Shift_Ins_p.R901fs|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Frame_Shift_Ins_p.R1014fs|NLRP12_ENST00000391775.3_Frame_Shift_Ins_p.R956fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1013					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCGGACACCTGTGTCCCCTAGG	0.564													18	58	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18301310	18301310	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr22:18301310delG	ENST00000441493.2	-	26	4469	c.4117delC	c.(4117-4119)agfs	p.Q1373fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1373	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCTCATCCTGGGGGGACTTT	0.637													133	170	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18301316	18301316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chr22:18301316delA	ENST00000441493.2	-	26	4463	c.4111delT	c.(4111-4113)ccfs	p.S1371fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1371	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCTGGGGGGACTTTTCAACG	0.637													8	277	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-86-8054-01A-11D-2238-08	TCGA-86-8054-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8fc382c-4d04-4ca7-a289-235957d3bb04	ffecef8b-1e5d-42fc-8a3f-28ae2f05b7f3	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	8	---	---	---	---					
