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
HIVEP1	3096	broad.mit.edu	37	6	12123060	12123060	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:12123060T>C	ENST00000379388.2	+	4	3364	c.3032T>C	c.(3031-3033)cTa>cCa	p.L1011P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1011					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTCAGATTCTACACTACAGA	0.488000													168	83					0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10359187	10359187	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:10359187C>T	ENST00000255381.2	-	18	2110	c.2000G>A	c.(1999-2001)aGg>aAg	p.R667K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	667	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGTGCTCCTCAAGTTGGT	0.418000													44	76					0	0	0.000781405	0	0
TSPO2	222642	broad.mit.edu	37	6	41011867	41011867	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:41011867G>A	ENST00000373161.1	+	4	749	c.504G>A	c.(502-504)aaG>aaA	p.K168K	TSPO2_ENST00000373158.2_3'UTR|TSPO2_ENST00000470917.1_Silent_p.K168K	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	168					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCACGGAGAAGAGTGACTGAG	0.627000													8	42					0	0	0.000442599	0	0
WNT8A	7478	broad.mit.edu	37	5	137424723	137424723	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:137424723C>T	ENST00000506684.1	+	4	765	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	WNT8A_ENST00000398754.1_Silent_p.L159L			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	159					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCAGAGCCCTGATGAATCT	0.522000													59	75					0	0	0.000781405	0	0
COL4A6	1288	broad.mit.edu	37	X	107420087	107420087	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:107420087G>A	ENST00000394872.2	-	28	2904	c.2673C>T	c.(2671-2673)gcC>gcT	p.A891A	COL4A6_ENST00000545689.1_Silent_p.A890A|COL4A6_ENST00000538570.1_Silent_p.A890A|COL4A6_ENST00000334504.7_Silent_p.A890A|COL4A6_ENST00000372216.4_Silent_p.A891A			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	891	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCCAGAGAGGGCTGGCAACC	0.552000									Alport syndrome with Diffuse Leiomyomatosis				44	16					0	0	0.000781405	0	0
WDR72	256764	broad.mit.edu	37	15	53908161	53908161	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:53908161C>T	ENST00000396328.1	-	15	2481	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	WDR72_ENST00000557913.1_Missense_Mutation_p.E745K|WDR72_ENST00000559418.1_Missense_Mutation_p.E758K|WDR72_ENST00000360509.5_Missense_Mutation_p.E748K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	748										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCCAGGCTTTCAGTAATAGGC	0.423000													27	34					0	0	0.000720815	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290822	20290822	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:20290822G>A	ENST00000377252.3	+	2	1072	c.231G>A	c.(229-231)acG>acA	p.T77T	PLXDC2_ENST00000377242.3_Silent_p.T77T	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CGGTAGACACGAACCGAGCAA	0.537000													17	21					0	0	0.000422831	0	0
WDR49	151790	broad.mit.edu	37	3	167223161	167223161	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:167223161C>T	ENST00000308378.3	-	13	2067	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	WDR49_ENST00000476376.1_Missense_Mutation_p.E413K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.E553K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	588										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTACTTCTTTCCTTATATTTT	0.279000													13	48					0	0	0.000219431	0	0
BICC1	80114	broad.mit.edu	37	10	60549476	60549476	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60549476G>A	ENST00000373886.3	+	8	834	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	277					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CATCTTGCTGGGAGCTTAGCA	0.408000													60	111					0	0	0.000781405	0	0
GLIS3	169792	broad.mit.edu	37	9	4286122	4286122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:4286122G>A	ENST00000381971.3	-	2	897	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	334	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTCCAGCCTGGGTGACCTGG	0.537000													27	45					0	0	0.000147802	0	0
LRRC23	10233	broad.mit.edu	37	12	7021927	7021927	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:7021927C>T	ENST00000007969.8	+	7	1012	c.792C>T	c.(790-792)gcC>gcT	p.A264A	LRRC23_ENST00000443597.2_Silent_p.A264A|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	264										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGGAGCTGGCCAAGCTTCGAG	0.597000													18	40					0	0	0.000132079	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728911	3728911	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:3728911G>A	ENST00000254963.2	+	8	868	c.723G>A	c.(721-723)ctG>ctA	p.L241L	HSPA12B_ENST00000542646.1_Silent_p.L75L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	241							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCATCGCCCTGGAGCCCGAGG	0.677000													16	36					0	0	0.000958276	0	0
WDR38	401551	broad.mit.edu	37	9	127618183	127618183	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:127618183G>A	ENST00000373574.1	+	4	407	c.351G>A	c.(349-351)tcG>tcA	p.S117S		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	117										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCCCTGACTCGAGACAGCTGG	0.622000											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	40					0	0	0.000184323	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061512	117061512	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:117061512C>T	ENST00000355044.3	+	17	2903	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.P23L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	926	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCTCTTTTCCATATGGACAA	0.418000													25	46					0	0	0.000227799	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215449	118215449	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:118215449T>A	ENST00000402510.2	-	14	4972	c.4973A>T	c.(4972-4974)aAg>aTg	p.K1658M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1658										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGCAGTATCTTCTGAGCTTC	0.443000													43	7					0	0	0.000781405	0	0
LPHN3	23284	broad.mit.edu	37	4	62903453	62903453	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:62903453G>A	ENST00000512091.1	+	23	4139	c.3392G>A	c.(3391-3393)cGa>cAa	p.R1131Q	LPHN3_ENST00000507164.1_Missense_Mutation_p.R1190Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1131Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1122Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1190Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1122Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1122Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1190Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1199Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1199Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1131Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1131Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1131Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1199Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1190Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1109					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGCTAGGTACGAAAAGAGTAT	0.373000													45	53					0	0	0.000781405	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908385	131908385	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:131908385C>T	ENST00000359827.3	-	9	2960	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	PLXNA4_ENST00000321063.4_Silent_p.V666V			Q9HCM2	PLXA4_HUMAN	plexin A4	666	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGGACTCTCCACGCAGGACA	0.577000													9	12					0	0	0.000274275	0	0
ASB18	401036	broad.mit.edu	37	2	237149963	237149963	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:237149963C>T	ENST00000330842.6	-	1	295	c.201G>A	c.(199-201)atG>atA	p.M67I	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Missense_Mutation_p.M96I			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	96					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCTGCCATTCCATCTCATCCT	0.488000													24	56					0	0	0.000586117	0	0
TRAM1	23471	broad.mit.edu	37	8	71495998	71495998	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:71495998C>A	ENST00000521425.1	-	9	1555	c.519G>T	c.(517-519)ttG>ttT	p.L173F	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.L259F|TRAM1_ENST00000536748.1_Missense_Mutation_p.L228F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	259	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GAAGTCTTCCCAAAACAAAAA	0.368000													13	540					0.000308642	0.00411228	0.000308642	1	0
LILRA3	11026	broad.mit.edu	37	19	54803128	54803128	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:54803128G>A	ENST00000391745.1	-	8	916	c.600C>T	c.(598-600)tcC>tcT	p.S200S	LILRA3_ENST00000251390.3_Silent_p.S183S|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGGGCCCACGGAGAAGATGG	0.572000													23	36					0	0	0.000720815	0	0
OR5W2	390148	broad.mit.edu	37	11	55681147	55681147	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:55681147C>T	ENST00000344514.1	-	1	911	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ttttatttttCAGTTTTTTCA	0.303000													12	12					0	0	0.00010058	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130495	52130495	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:52130495G>A	ENST00000222107.4	-	7	1427	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S430L|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S430L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S430L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S430L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCCGAGGTTCGATCTCCCTGC	0.557000													9	31					0	0	0.000442599	0	0
SAP30	8819	broad.mit.edu	37	4	174294556	174294556	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:174294556A>T	ENST00000296504.3	+	2	571	c.331A>T	c.(331-333)Ata>Tta	p.I111L		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	111	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCATCTTTACATATGTGATTA	0.338000													13	31					0	0	0.000151284	0	0
GLI2	2736	broad.mit.edu	37	2	121746901	121746901	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:121746901G>A	ENST00000452319.1	+	14	3471	c.3411G>A	c.(3409-3411)ctG>ctA	p.L1137L	GLI2_ENST00000314490.11_Silent_p.L809L|GLI2_ENST00000361492.4_Silent_p.L1137L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1137					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCCTGAACAAAAATA	0.637000													12	17					0	0	0.000151284	0	0
AGAP7	653268	broad.mit.edu	37	10	51464892	51464892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:51464892C>T	ENST00000374095.5	-	7	1689	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	522	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTGCTCCCTTCCCAGATGCTG	0.542000													39	127					0	0	0.000191422	0	0
FPR2	2358	broad.mit.edu	37	19	52272426	52272426	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:52272426G>A	ENST00000598776.1	+	2	1287	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR2_ENST00000598953.1_Missense_Mutation_p.G172E|FPR2_ENST00000340023.6_Missense_Mutation_p.G172E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	172					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATTCCAAATGGGGACACATAC	0.502000													34	52					0	0	0.00058488	0	0
MYH14	79784	broad.mit.edu	37	19	50784919	50784919	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:50784919C>T	ENST00000440075.2	+	33	4406	c.4359C>T	c.(4357-4359)cgC>cgT	p.R1453R	MYH14_ENST00000601313.1_Silent_p.R1453R|MYH14_ENST00000598205.1_Silent_p.R1420R|MYH14_ENST00000596571.1_Silent_p.R1412R|MYH14_ENST00000425460.1_Silent_p.R1420R|MYH14_ENST00000376970.2_Silent_p.R1445R|MYH14_ENST00000262269.8_Silent_p.R1453R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1412					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCACGGCGCCGGGCAGCCC	0.731000													7	11					0	0	8.12818e-05	0	0
OR14I1	401994	broad.mit.edu	37	1	248844733	248844733	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:248844733C>T	ENST00000342623.3	-	1	896	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	291					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						TCTCCTTATTCCTAAGACTAT	0.378000													18	111					0	0	0.000132079	0	0
NOL4	8715	broad.mit.edu	37	18	31599311	31599311	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31599311C>T	ENST00000261592.5	-	6	1324	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	NOL4_ENST00000538587.1_Missense_Mutation_p.E269K|NOL4_ENST00000535475.1_Missense_Mutation_p.E188K|NOL4_ENST00000269185.4_Missense_Mutation_p.E229K|NOL4_ENST00000535384.1_Missense_Mutation_p.E58K|NOL4_ENST00000589544.1_Missense_Mutation_p.E343K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	343						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCTCTCGTTCCATCTTGAGG	0.378000													15	40					0	0	0.000566183	0	0
ZBED4	9889	broad.mit.edu	37	22	50277355	50277355	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:50277355C>T	ENST00000216268.4	+	2	522	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	15						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGGTGATTTCGTTTCTGATA	0.383000													25	15					0	0	0.00047179	0	0
LAMA2	3908	broad.mit.edu	37	6	129636653	129636653	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:129636653C>T	ENST00000421865.2	+	25	3637	c.3588C>T	c.(3586-3588)ccC>ccT	p.P1196P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1196	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATTCTACCCCTGGTAGATG	0.463000													27	42					0	0	0.000147802	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476827	110476827	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:110476827A>G	ENST00000378402.5	+	49	7870	c.7766A>G	c.(7765-7767)aAc>aGc	p.N2589S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2589					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCGGATGAACAACCACCCT	0.463000										HNSCC(38;0.096)			47	12					0	0	0.000781405	0	0
ZFP57	346171	broad.mit.edu	37	6	29640402	29640402	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29640402C>T	ENST00000376883.1	-	6	1837	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	ZFP57_ENST00000488757.1_Missense_Mutation_p.E496K|ZFP57_ENST00000376881.3_Missense_Mutation_p.E476K			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	412					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGCTTCCATTCCTCCCCAGCC	0.557000													18	60					0	0	0.00074312	0	0
GAP43	2596	broad.mit.edu	37	3	115395218	115395218	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:115395218C>T	ENST00000393780.3	+	3	965	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GAP43_ENST00000305124.6_Missense_Mutation_p.S130F	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	130					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTCCTGCATCCTCAGAGGAG	0.597000													13	18					0	0	0.000219431	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327841	42327841	+	Silent	SNP	C	C	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:42327841C>G	ENST00000262418.6	-	20	2876	c.2721G>C	c.(2719-2721)gtG>gtC	p.V907V		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	907	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGCATGGCCACTTCGTCGT	0.587000													6	32					0	0	0.000157383	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795152	142795152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:142795152C>T	ENST00000370498.1	-	2	1279	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	176										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCACCCTCCTGTGAAGAT	0.468000													81	25					0	0	0.000781405	0	0
CEP78	84131	broad.mit.edu	37	9	80879234	80879234	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:80879234T>G	ENST00000424347.2	+	13	1914		c.e13+2		CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000376598.2_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGATGCTGGGTTAGTTACTTT	0.373000													17	23					0	0	0.000229342	0	0
GPR116	221395	broad.mit.edu	37	6	46849309	46849309	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:46849309C>T	ENST00000283296.7	-	8	985	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GPR116_ENST00000456426.2_Missense_Mutation_p.E233K|GPR116_ENST00000265417.7_Missense_Mutation_p.E233K|GPR116_ENST00000362015.4_Missense_Mutation_p.E233K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	233	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCTTGACTTCATATGTCACA	0.398000													17	83					0	0	0.00074312	0	0
CCDC147	159686	broad.mit.edu	37	10	106152021	106152021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:106152021C>T	ENST00000369704.3	+	10	1530	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	466										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CATAAAAGTTCGTGAAACACA	0.358000													55	97					0	0	0.000781405	0	0
ZBBX	79740	broad.mit.edu	37	3	167045778	167045778	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:167045778C>T	ENST00000392766.2	-	11	1154	c.814G>A	c.(814-816)Gga>Aga	p.G272R	ZBBX_ENST00000455345.2_Missense_Mutation_p.G272R|ZBBX_ENST00000307529.5_Missense_Mutation_p.G272R|ZBBX_ENST00000392764.1_Missense_Mutation_p.G243R|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.G272R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	272						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCATGATTTCCGGTTCTCCAT	0.378000													48	84					0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71431685	71431685	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:71431685T>A	ENST00000392650.3	-	9	1099	c.1099A>T	c.(1099-1101)Atc>Ttc	p.I367F	SDK2_ENST00000388726.3_Missense_Mutation_p.I367F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	367	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGCCGCTGATCTGCAGGCCC	0.642000													4	4					0	0	0.00024832	0	0
HTR1E	3354	broad.mit.edu	37	6	87725904	87725904	+	Silent	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:87725904C>A	ENST00000305344.4	+	2	1555	c.852C>A	c.(850-852)acC>acA	p.T284T	HTR1E_ENST00000369584.1_Silent_p.T284T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	284					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCTAGCACCAGGGAACGGA	0.507000													38	59					6.5261e-18	8.84438e-17	0.000374591	1	0
OR11G2	390439	broad.mit.edu	37	14	20666112	20666112	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20666112C>T	ENST00000357366.3	+	1	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAATGTCCTTCTGTGGATCTA	0.438000													39	21					0	0	0.000191422	0	0
GPR152	390212	broad.mit.edu	37	11	67219602	67219602	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:67219602G>A	ENST00000312457.2	-	1	598	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	198						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCCCCCAGGACCTCCAGCA	0.667000													13	31					0	0	0.000151284	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6301907	6301907	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:6301907C>T	ENST00000400104.3	-	4	322	c.122G>A	c.(121-123)aGt>aAt	p.S41N	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S41N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S41N|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S41N			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	41					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTACCGTGACTCAAAGGGGT	0.338000													52	89					0	0	0.000781405	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17950950	17950950	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:17950950C>T	ENST00000361221.3	+	13	1428	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	ARHGEF10L_ENST00000434513.1_Silent_p.I423I|ARHGEF10L_ENST00000375415.1_Silent_p.I384I|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.I181I|ARHGEF10L_ENST00000375408.3_Silent_p.I201I|ARHGEF10L_ENST00000452522.1_Silent_p.I384I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	423	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCATGTCCATCATCAAGAAGG	0.562000													36	57					0	0	0.000491102	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062066	78062066	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:78062066G>A	ENST00000299642.4	+	2	290	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.E60K	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	60					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGCCTTGAAGGAAATTCAAGC	0.473000													5	33					0	0	8.12818e-05	0	0
STAT4	6775	broad.mit.edu	37	2	191927508	191927508	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:191927508C>T	ENST00000392320.2	-	9	1235	c.921G>A	c.(919-921)ttG>ttA	p.L307L	STAT4_ENST00000358470.4_Silent_p.L307L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	307					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGTTGTAGATCAAGAAGGTGA	0.408000													16	29					0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82585696	82585696	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:82585696G>A	ENST00000423517.2	-	5	4910	c.4573C>T	c.(4573-4575)Cca>Tca	p.P1525S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1525S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1456					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						TTTCTTTGTGGAACAGGTGAG	0.413000													27	39					0	0	0.000720815	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826994	96826994	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96826994C>T	ENST00000371270.3	-	3	546	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	CYP2C8_ENST00000539050.1_Missense_Mutation_p.C65Y|CYP2C8_ENST00000535898.1_Missense_Mutation_p.C49Y	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	151					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTCCACAAGGCAGTGAGCTTC	0.498000													41	66					0	0	0.000781405	0	0
HOXD4	3233	broad.mit.edu	37	2	177017509	177017509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:177017509C>T	ENST00000306324.3	+	2	1019	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GATCTGGTTCCAGAACCGGAG	0.493000													20	26					0	0	0.000229342	0	0
PTGS1	5742	broad.mit.edu	37	9	125145866	125145866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125145866C>T	ENST00000362012.2	+	8	846	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	PTGS1_ENST00000373698.5_Nonsense_Mutation_p.Q172*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.Q281*|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.Q256*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	281					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CATCCCGCCCCAGAGCCAGAT	0.627000													11	15					0	0	0.00010058	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052847	193052847	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:193052847C>T	ENST00000342358.4	-	10	1102	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	329					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATAGTGTTCTCCATCTGGGGC	0.438000													40	71					0	0	0.000781405	0	0
OR5V1	81696	broad.mit.edu	37	6	29323323	29323323	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29323323G>A	ENST00000377154.1	-	4	949	c.650C>T	c.(649-651)tCc>tTc	p.S217F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S217F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAAATGTAGGAAAGTACGAT	0.468000													27	94					0	0	0.000227799	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000													36	35					0	0	0.000228196	0	0
PLCE1	51196	broad.mit.edu	37	10	96043626	96043626	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96043626G>A	ENST00000260766.3	+	21	5509	c.4875G>A	c.(4873-4875)aaG>aaA	p.K1625K	PLCE1_ENST00000371380.2_Silent_p.K1625K|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371385.3_Silent_p.K1317K|PLCE1_ENST00000371375.1_Silent_p.K1317K|PLCE1-AS1_ENST00000425267.3_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1625					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAATCCCAAAGAGGATAAAGA	0.368000													18	24					0	0	0.000132079	0	0
PCLO	27445	broad.mit.edu	37	7	82584171	82584171	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:82584171G>A	ENST00000423517.2	-	5	6435	c.6098C>T	c.(6097-6099)tCt>tTt	p.S2033F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2033F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1964					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						GATGATAAAAGAGCTTGAAAC	0.388000													24	37					0	0	0.000295444	0	0
DOCK3	1795	broad.mit.edu	37	3	50816191	50816191	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:50816191T>G	ENST00000266037.9	+	2	144		c.e2+2			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATGTGAAGGTGAGTATGGAC	0.358000													5	5					0	0	0.000602214	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138427	124138427	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:124138427C>A	ENST00000287380.1	+	12	1792	c.1702C>A	c.(1702-1704)Cag>Aag	p.Q568K	TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q445K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q463K|TBC1D31_ENST00000518805.1_Missense_Mutation_p.Q201K|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q463K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q568K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q568K	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TATAACCTCCCAGGTAAGAAG	0.333000													8	159					0.000442599	0.00586741	0.000442599	1	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:10920116C>T	ENST00000298232.7	-	18	1451	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E342K|TPTE_ENST00000361285.4_Missense_Mutation_p.E380K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		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)		TGAAATTTTTCGCTGTGGGTT	0.393000													15	90					0	0	0.000308642	0	0
SLC26A1	10861	broad.mit.edu	37	4	982735	982735	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:982735C>T	ENST00000361661.2	-	4	2369	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	SLC26A1_ENST00000398516.2_Silent_p.G664G|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	664	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGGGCCCTCCCCGAGGAAGC	0.682000													5	2					0	0	0.000602214	0	0
C10orf113	387638	broad.mit.edu	37	10	21414799	21414799	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:21414799C>T	ENST00000534331.1	-	2	471	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.E131K	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	141										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTGAACTTTTCTTTTATGCCC	0.393000													58	77					0	0	0.000781405	0	0
SNTG1	54212	broad.mit.edu	37	8	51362269	51362269	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:51362269C>T	ENST00000522124.1	+	6	922	c.261C>T	c.(259-261)atC>atT	p.I87I	SNTG1_ENST00000518864.1_Silent_p.I87I|SNTG1_ENST00000517473.1_Silent_p.I87I|SNTG1_ENST00000276467.5_Silent_p.I87I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	87	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTCAAAAATCTCCAAGGAAC	0.318000													47	21					0	0	0.000781405	0	0
MKI67	4288	broad.mit.edu	37	10	129904640	129904640	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:129904640G>A	ENST00000368654.3	-	13	5839	c.5464C>T	c.(5464-5466)Cgt>Tgt	p.R1822C	MKI67_ENST00000368653.3_Missense_Mutation_p.R1462C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1822	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTTCCTTACGAGTTTGTAGC	0.473000													38	87					0	0	0.000191422	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:248437021G>A	ENST00000318021.2	-	1	117	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	32					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)			AGGTCAAAACGATACTCAGAA	0.478000													12	85					0	0	0.000375601	0	0
KRT37	8688	broad.mit.edu	37	17	39580551	39580551	+	Silent	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:39580551A>G	ENST00000225550.3	-	1	224	c.225T>C	c.(223-225)acT>acC	p.T75T	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	75	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGGACAAGCAGTGTGACTGG	0.612000													19	32					0	0	0.000958276	0	0
ABCC9	10060	broad.mit.edu	37	12	21960321	21960321	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:21960321G>A	ENST00000261200.4	-	36	4407	c.4408C>T	c.(4408-4410)Ctt>Ttt	p.L1470F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L1434F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L1470F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1470	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCATAATAAGAATGCTGCTT	0.423000													46	75					0	0	0.000781405	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105226	60105226	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:60105226C>T	ENST00000300182.4	+	2	225	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	54						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GCATAGCAGCCTGGCTGGAAG	0.483000													30	48					0	0	0.000409698	0	0
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:10906987C>T	ENST00000298232.7	-	23	1887	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	C2 tensin-type.				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)		TGGATAAATTCTCCGTGCTTT	0.358000													8	65					0	0	0.000157383	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073287	17073287	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:17073287C>T	ENST00000359963.3	-	1	413	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	52					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGTGGGGGCCATAGCAAGGC	0.647000													14	32					0	0	0.00074312	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022471	161022471	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:161022471C>T	ENST00000368013.3	-	7	1101	c.781G>A	c.(781-783)Gat>Aat	p.D261N	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D261N|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D84N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	261					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGGGTCCATCGCCAGCCTGC	0.612000													7	20					0	0	8.12818e-05	0	0
VARS	7407	broad.mit.edu	37	6	31749490	31749490	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:31749490G>A	ENST00000375663.3	-	20	2836	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	799					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCCAAAATGGATAAGGGGAA	0.617000													33	136					0	0	0.000491102	0	0
OR10J1	26476	broad.mit.edu	37	1	159410436	159410436	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:159410436C>T	ENST00000423932.3	+	1	925	c.888C>T	c.(886-888)aaC>aaT	p.N296N	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	296					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCCTACTGAACCCTGTGGTAT	0.512000													64	34					0	0	0.000781405	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440321	49440321	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49440321C>T	ENST00000374201.3	-	10	1307	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	FRMPD2_ENST00000407470.4_Silent_p.G304G|FRMPD2_ENST00000305531.3_Silent_p.G311G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	335					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AATAGGATTTCCCTTTTTTGG	0.423000													16	17					0	0	0.000566183	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450538	107450538	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:107450538C>T	ENST00000409382.3	-	3	1618	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G	ST6GAL2_ENST00000409087.3_Silent_p.G336G|ST6GAL2_ENST00000361686.4_Silent_p.G336G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	336					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGTTTTATTCCCAACATCTT	0.383000													48	97					0	0	0.000781405	0	0
MAML3	55534	broad.mit.edu	37	4	140810856	140810856	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:140810856G>A	ENST00000509479.2	-	2	2590	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	MAML3_ENST00000398940.1_Silent_p.I106I|MAML3_ENST00000327122.5_Silent_p.I422I	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	574	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCTGCTGATTGATCATATTCA	0.413000													143	239					0	0	0.000781405	0	0
RNGTT	8732	broad.mit.edu	37	6	89387977	89387977	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:89387977G>A	ENST00000369475.3	-	14	1752	c.1601C>T	c.(1600-1602)tCg>tTg	p.S534L	RNGTT_ENST00000369485.4_Intron|RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Intron			O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	0	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		gctggaaCACGATATTTTTAT	0.378000													6	11					0	0	3.59834e-05	0	0
OR51B2	79345	broad.mit.edu	37	11	5345000	5345000	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5345000G>A	ENST00000328813.2	-	1	582	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGAGGCAGAAAGCACGTG	0.388000													28	37					0	0	0.000279167	0	0
ASXL3	80816	broad.mit.edu	37	18	31325550	31325550	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31325550T>C	ENST00000269197.5	+	12	5738	c.5738T>C	c.(5737-5739)gTt>gCt	p.V1913A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTATTTCATGTTGACAAGAAT	0.527000													35	59					0	0	0.000953801	0	0
VSX2	338917	broad.mit.edu	37	14	74711882	74711882	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:74711882C>T	ENST00000261980.2	+	3	560	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	157					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ATCTTTACCTCCTACCAGCTA	0.547000													9	15					0	0	0.000442599	0	0
DAP3	7818	broad.mit.edu	37	1	155686885	155686885	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:155686885C>T	ENST00000368336.5	+	3	258	c.134C>T	c.(133-135)cCg>cTg	p.P45L	DAP3_ENST00000343043.3_Missense_Mutation_p.P45L|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.P45L|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	45					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTGAGAGTCCGAGAGCTATT	0.473000													34	128					0	0	0.000191422	0	0
UNC13A	23025	broad.mit.edu	37	19	17752324	17752324	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:17752324G>A	ENST00000428389.2	-	22	2777	c.2778C>T	c.(2776-2778)gtC>gtT	p.V926V	UNC13A_ENST00000519716.2_Silent_p.V838V|UNC13A_ENST00000551649.1_Silent_p.V838V|UNC13A_ENST00000552293.1_Silent_p.V838V|UNC13A_ENST00000550896.1_Silent_p.V836V|UNC13A_ENST00000252773.7_Silent_p.V838V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGATCTTCACGACCCCATTGT	0.577000													16	25					0	0	0.000958276	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883483	7883483	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:7883483C>T	ENST00000542353.1	-	6	897	c.407G>A	c.(406-408)aGa>aAa	p.R136K	CLEC4C_ENST00000354629.5_Missense_Mutation_p.R105K|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R136K|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R105K	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	136	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R136I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGAAGAATTTCTTTTCAGATT	0.458000													25	45					0	0	0.000878237	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5345040G>A	ENST00000328813.2	-	1	542	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000													22	47					0	0	0.000229342	0	0
APBA1	320	broad.mit.edu	37	9	72064641	72064641	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:72064641G>A	ENST00000265381.4	-	10	2262	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	680	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACGGTGGGGAGGATGGATC	0.488000													45	42					0	0	0.000781405	0	0
SLC27A6	28965	broad.mit.edu	37	5	128326113	128326113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:128326113C>T	ENST00000262462.4	+	4	1935	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Q309*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Q309*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	309					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACTGTGTTTCAGTATATTGG	0.348000													17	34					0	0	0.000566183	0	0
SNURF	8926	broad.mit.edu	37	15	25200198	25200198	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:25200198G>A	ENST00000338094.6	+	1	64	c.3G>A	c.(1-3)atG>atA	p.M1I	SNRPN_ENST00000400097.1_Intron|SNRPN_ENST00000553597.1_Intron|SNURF_ENST00000338327.4_Start_Codon_SNP_p.M1I|SNRPN_ENST00000400098.1_Intron|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400100.1_Intron|SNURF_ENST00000577949.1_Start_Codon_SNP_p.M1I|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GTGACGCGATGGAGCGGGCAA	0.602000													16	31					0	0	0.000566183	0	0
CRTC3	64784	broad.mit.edu	37	15	91172622	91172622	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:91172622C>T	ENST00000420329.2	+	11	1271	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S375F	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	375					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCATCTCTTTCCACCACAAAC	0.557000			T	MAML2	salivary gland mucoepidermoid								486	162					0	0	0.000781405	0	0
TRIM33	51592	broad.mit.edu	37	1	115006056	115006056	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:115006056G>A	ENST00000358465.2	-	3	851	c.768C>T	c.(766-768)atC>atT	p.I256I	TRIM33_ENST00000369543.2_Silent_p.I256I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	256					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTTCCTGATCAAGTGAT	0.353000			T	RET	papillary thyroid								29	59					0	0	0.000227799	0	0
C2CD5	9847	broad.mit.edu	37	12	22678631	22678631	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:22678631C>A	ENST00000333957.4	-	5	613	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.G120W|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.G120W|C2CD5_ENST00000446597.1_Missense_Mutation_p.G120W|C2CD5_ENST00000396028.2_Missense_Mutation_p.G120W|C2CD5_ENST00000545552.1_Missense_Mutation_p.G120W	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TTGATTTCCCCACGGATACCT	0.279000													9	261					0.000442599	0.00586741	0.000442599	1	0
POTEG	404785	broad.mit.edu	37	14	19553561	19553561	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:19553561C>T	ENST00000409832.3	+	1	197	c.145C>T	c.(145-147)Cac>Tac	p.H49Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	49										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTGGAGACCACGACGATTC	0.607000													28	352					0	0	0.000781405	0	0
DPYD	1806	broad.mit.edu	37	1	98165083	98165083	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:98165083G>A	ENST00000370192.3	-	6	604	c.504C>T	c.(502-504)atC>atT	p.I168I	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	168					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATCTGTGGGATACTCATTG	0.383000													47	84					0	0	0.000781405	0	0
CLIC5	53405	broad.mit.edu	37	6	45922904	45922904	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:45922904G>A	ENST00000185206.6	-	2	770	c.618C>T	c.(616-618)gtC>gtT	p.V206V	CLIC5_ENST00000544153.1_Silent_p.V47V|CLIC5_ENST00000339561.6_Silent_p.V47V	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	206					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CATTGAACACGACTCCTTTCA	0.478000													22	103					0	0	0.000375601	0	0
TSPAN10	83882	broad.mit.edu	37	17	79609381	79609381	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:79609381G>A	ENST00000328585.4	+	0	33					NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGCCACAGAGGAGCCAGCGA	0.667000													21	20					0	0	0.000132079	0	0
CCDC57	284001	broad.mit.edu	37	17	80153206	80153206	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:80153206T>C	ENST00000392347.1	-	4	587	c.551A>G	c.(550-552)aAg>aGg	p.K184R	CCDC57_ENST00000392343.3_Missense_Mutation_p.K184R|CCDC57_ENST00000389641.4_Missense_Mutation_p.K184R	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTGCTCCCTCTTCCGCATTTT	0.532000													8	3					0	0	0.000673444	0	0
OR5M9	390162	broad.mit.edu	37	11	56230572	56230572	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:56230572G>A	ENST00000279791.1	-	1	305	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAACGGCAATGAAAAAGTAGC	0.468000													38	48					0	0	0.000781405	0	0
GPR55	9290	broad.mit.edu	37	2	231775270	231775270	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:231775270C>T	ENST00000392040.1	-	2	600	c.408G>A	c.(406-408)agG>agA	p.R136R	GPR55_ENST00000392039.2_Silent_p.R136R	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	136					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CAAAGATCTTCCTGGGGGACC	0.542000													13	26					0	0	0.00010058	0	0
FYCO1	79443	broad.mit.edu	37	3	46009380	46009380	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:46009380G>A	ENST00000296137.2	-	8	1651	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	FYCO1_ENST00000535325.1_Silent_p.S482S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	482					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCCTCCCAGGAGCTCGTGT	0.622000													38	45					0	0	0.000228196	0	0
CFTR	1080	broad.mit.edu	37	7	117282597	117282597	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:117282597G>A	ENST00000003084.6	+	23	3955	c.3823G>A	c.(3823-3825)Gat>Aat	p.D1275N	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D1214N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1275	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTGTCTTGGGATTCAATAAC	0.403000									Cystic Fibrosis				17	29					0	0	0.00074312	0	0
MATK	4145	broad.mit.edu	37	19	3779419	3779419	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:3779419C>T	ENST00000310132.6	-	11	1356	c.958G>A	c.(958-960)Ggt>Agt	p.G320S	MATK_ENST00000585778.1_Missense_Mutation_p.G320S|MATK_ENST00000395040.2_Missense_Mutation_p.G279S|MATK_ENST00000395045.2_Missense_Mutation_p.G321S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	320	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCTCGACCCCGGGTCCGC	0.672000													11	18					0	0	0.000673444	0	0
KCNG4	93107	broad.mit.edu	37	16	84270534	84270534	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:84270534C>T	ENST00000568181.1	-	2	678	c.558G>A	c.(556-558)caG>caA	p.Q186Q	KCNG4_ENST00000308251.4_Silent_p.Q186Q			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCTCCCTCTGCTGCCTCAGTA	0.692000													14	7					0	0	0.000219431	0	0
ALPK1	80216	broad.mit.edu	37	4	113352855	113352855	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:113352855C>T	ENST00000458497.1	+	11	2431	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	ALPK1_ENST00000504176.2_Missense_Mutation_p.R640C|ALPK1_ENST00000177648.9_Missense_Mutation_p.R718C	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	718							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACCCTCATATCGTTCTGCTTC	0.473000													32	28					0	0	0.000814825	0	0
WDR33	55339	broad.mit.edu	37	2	128471435	128471435	+	Silent	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:128471435G>T	ENST00000322313.4	-	18	3188	c.3030C>A	c.(3028-3030)ccC>ccA	p.P1010P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1010					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGAAGTCATCGGGGAAGTCTG	0.632000													6	152					0.000274275	0.00366055	0.000274275	1	0
AXDND1	126859	broad.mit.edu	37	1	179354411	179354411	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:179354411C>T	ENST00000367618.3	+	9	1167	c.780C>T	c.(778-780)acC>acT	p.T260T	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.T260T	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	260										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAACAGACCATTTACAACA	0.353000													23	77					0	0	0.000375601	0	0
CCDC57	284001	broad.mit.edu	37	17	80153205	80153205	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:80153205C>T	ENST00000392347.1	-	4	588	c.552G>A	c.(550-552)aaG>aaA	p.K184K	CCDC57_ENST00000392343.3_Silent_p.K184K|CCDC57_ENST00000389641.4_Silent_p.K184K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CGTGCTCCCTCTTCCGCATTT	0.532000													7	3					0	0	0.000442599	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508931	102508931	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:102508931C>T	ENST00000321521.9	+	20	2932	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R787C|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R787C			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	787					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R787C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAGAAAAATTCGCTCAGACCT	0.353000													22	48					0	0	0.000375601	0	0
WDR49	151790	broad.mit.edu	37	3	167218038	167218038	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:167218038C>T	ENST00000308378.3	-	14	2183	c.1878G>A	c.(1876-1878)gtG>gtA	p.V626V	WDR49_ENST00000476376.1_Silent_p.V451V|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.V591V	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	626										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGGTTTATTCACTTCAGGCA	0.433000													71	128					0	0	0.000781405	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867749	45867749	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45867749G>A	ENST00000311275.7	-	15	2611	c.2358C>T	c.(2356-2358)acC>acT	p.T786T	ZMYND8_ENST00000360911.3_Silent_p.T781T|ZMYND8_ENST00000372023.3_Silent_p.T781T|ZMYND8_ENST00000461685.1_Silent_p.T806T|ZMYND8_ENST00000396281.4_Silent_p.T786T|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000262975.4_Silent_p.T786T|ZMYND8_ENST00000355972.4_Silent_p.T786T|ZMYND8_ENST00000446994.2_Silent_p.T723T|ZMYND8_ENST00000352431.2_Silent_p.T806T|ZMYND8_ENST00000471951.2_Silent_p.T806T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Silent_p.T734T|ZMYND8_ENST00000536340.1_Silent_p.T813T			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	786							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGCCGTGACGGTGACCGTGG	0.687000													53	57					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61833842	61833842	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:61833842C>T	ENST00000280772.1	-	37	6988	c.6797G>A	c.(6796-6798)aGa>aAa	p.R2266K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2266					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTCAATTCTTTCAGATGC	0.463000													43	72					0	0	0.000437636	0	0
PARM1	25849	broad.mit.edu	37	4	75937961	75937961	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:75937961G>A	ENST00000307428.7	+	2	582	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	124					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACGTTGGAGGAACACAGCTC	0.587000													26	42					0	0	0.000586117	0	0
FCRL5	83416	broad.mit.edu	37	1	157490968	157490968	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:157490968C>T	ENST00000361835.3	-	11	2511	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.R785Q|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	785	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGAAAAAACCGGTACAGGAT	0.597000													61	28					0	0	0.000781405	0	0
ZNF500	26048	broad.mit.edu	37	16	4802948	4802948	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:4802948G>A	ENST00000219478.6	-	6	1171	c.872C>T	c.(871-873)cCa>cTa	p.P291L	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.P291L			O60304	ZN500_HUMAN	zinc finger protein 500	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCTCTGACCTGGGAGCGGGTG	0.677000													30	23					0	0	0.000227799	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327224	150327224	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:150327224C>T	ENST00000328902.5	-	2	223	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E3K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	3							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCTTCTTCCTCCATCTAC	0.428000													22	28					0	0	0.000229342	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								16	42					0	0	0.000566183	0	0
SORL1	6653	broad.mit.edu	37	11	121500230	121500230	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:121500230G>A	ENST00000260197.7	+	48	6732	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	SORL1_ENST00000527934.1_Missense_Mutation_p.M816I|SORL1_ENST00000534286.1_Missense_Mutation_p.M1111I|SORL1_ENST00000532694.1_Missense_Mutation_p.M1047I|SORL1_ENST00000525532.1_Missense_Mutation_p.M1145I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2201					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGCCCCTATGATAACTGGAT	0.423000													26	49					0	0	0.000279167	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923482	9923482	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:9923482C>T	ENST00000396573.2	-	10	2114	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G602E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G602E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G602E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G602E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G445E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	602					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TATAGCTTTTCCAATTGTAAA	0.463000													24	68					0	0	0.000878237	0	0
SYNGR4	23546	broad.mit.edu	37	19	48879392	48879392	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:48879392C>T	ENST00000344846.2	+	5	772	c.522C>T	c.(520-522)gtC>gtT	p.V174V	SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	174						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		ATGCTCCAGTCCCTTACAAGC	0.597000													27	34					0	0	0.000692331	0	0
VWA7	80737	broad.mit.edu	37	6	31736937	31736937	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:31736937C>T	ENST00000375686.3	-	10	1598	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.R454Q|VWA7_ENST00000447450.1_Missense_Mutation_p.R454Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	454						extracellular region											ACGCCGAGCTCGACCCTGAAC	0.517000													71	316					0	0	0.000781405	0	0
RBBP6	5930	broad.mit.edu	37	16	24578597	24578597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:24578597C>T	ENST00000319715.4	+	15	2155	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P575S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		acttcctctccctccgggtgt	0.577000													34	84					0	0	0.000692331	0	0
OR10V1	390201	broad.mit.edu	37	11	59480799	59480799	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59480799C>T	ENST00000307552.2	-	1	538	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGGTAGATCTCATCATTGTGG	0.507000													20	33					0	0	0.000295444	0	0
TOX	9760	broad.mit.edu	37	8	59852006	59852006	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:59852006A>G	ENST00000361421.1	-	3	486	c.266T>C	c.(265-267)gTt>gCt	p.V89A		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	89						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				ACCAGACTCAACTTCATTCAG	0.493000													13	130					0	0	0.000219431	0	0
AZGP1	563	broad.mit.edu	37	7	99565926	99565926	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:99565926G>A	ENST00000411734.1	-	3	461	c.456C>T	c.(454-456)gtC>gtT	p.V152V	AZGP1_ENST00000292401.4_Silent_p.V155V			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	155					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTCGAAGGGGACCCAGGCTG	0.517000													36	72					0	0	0.000953801	0	0
CTSH	1512	broad.mit.edu	37	15	79231504	79231504	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:79231504T>A	ENST00000220166.5	-	2	210	c.101A>T	c.(100-102)cAc>cTc	p.H34L		NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	34					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGACTTGAAGTGAAACTTCTC	0.358000													16	131					0	0	0.000958276	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:86468433G>A	ENST00000361669.2	+	4	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_ENST00000546348.1_Missense_Mutation_p.E127K|GRM3_ENST00000536043.1_Missense_Mutation_p.E407K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	535					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCCCTGTGAACCCTACGA	0.532000													39	39					0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63721296	63721296	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:63721296C>T	ENST00000421025.1	+	4	520	c.251C>T	c.(250-252)aCc>aTc	p.T84I	ZNF679_ENST00000255746.4_Missense_Mutation_p.T84I	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGATGGTAACCAAACACCCA	0.418000													4	22					0	0	0.00024832	0	0
CNTN4	152330	broad.mit.edu	37	3	3067938	3067938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:3067938G>A	ENST00000397461.1	+	14	2023	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	CNTN4_ENST00000418658.1_Missense_Mutation_p.D547N|CNTN4_ENST00000397459.2_Missense_Mutation_p.D219N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D547N|CNTN4_ENST00000448906.2_Missense_Mutation_p.D219N|CNTN4_ENST00000358480.3_Missense_Mutation_p.D328N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	547	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGAGATGGGGACCACTTTGA	0.368000													19	29					0	0	0.000229342	0	0
ATRX	546	broad.mit.edu	37	X	76814187	76814187	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:76814187G>A	ENST00000373344.5	-	29	6671	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2115C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2153	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R2153C(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTCCAAAGCGATAAACTCTG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						56	15					0	0	0.000781405	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595977	140595977	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140595977C>T	ENST00000341948.4	+	1	2469	c.2282C>T	c.(2281-2283)aCc>aTc	p.T761I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		761					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCAGGGACCAATGAGTTC	0.552000													13	34					0	0	0.000151284	0	0
TLN1	7094	broad.mit.edu	37	9	35711303	35711303	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:35711303G>A	ENST00000314888.9	-	30	4321	c.3968C>T	c.(3967-3969)tCc>tTc	p.S1323F	TLN1_ENST00000540444.1_Missense_Mutation_p.S1323F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1323					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTCCGTGGACAGGGCCTT	0.572000													14	33					0	0	0.000219431	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785771	28785771	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:28785771T>G	ENST00000373839.3	+	3	451		c.e3+2		PHACTR4_ENST00000493669.1_Splice_Site|PHACTR4_ENST00000373836.3_Splice_Site	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4								actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCAGAAGGTGAGATATTAA	0.348000													25	46					0	0	0.00047179	0	0
BTNL9	153579	broad.mit.edu	37	5	180475028	180475028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:180475028G>A	ENST00000327705.9	+	3	442	c.211G>A	c.(211-213)Gag>Aag	p.E71K	BTNL9_ENST00000515271.1_Missense_Mutation_p.E2K|BTNL9_ENST00000376841.2_Missense_Mutation_p.E71K|BTNL9_ENST00000376842.3_Missense_Mutation_p.E71K	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	71	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCAAATGGAGATCCGCTG	0.622000													10	21					0	0	0.000673444	0	0
RPN1	6184	broad.mit.edu	37	3	128339278	128339278	+	Silent	SNP	G	G	A	rs142951968		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:128339278G>A	ENST00000296255.3	-	10	1848	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	RPN1_ENST00000497289.1_Silent_p.I428I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	600					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGATGTGGTCGATCTTGGTGA	0.602000			T	EVI1	AML								13	45					0	0	0.000219431	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956084	18956084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18956084G>A	ENST00000302797.3	-	1	472	c.248C>T	c.(247-249)tCc>tTc	p.S83F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	83					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTAACAGGGAATATATAAG	0.522000													59	132					0	0	0.000781405	0	0
KIF19	124602	broad.mit.edu	37	17	72351328	72351328	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:72351328G>A	ENST00000389916.4	+	20	3012	c.2874G>A	c.(2872-2874)ggG>ggA	p.G958G		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	958					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGCCCGGGGGACTCCTCAC	0.657000													11	28					0	0	0.00010058	0	0
IGSF22	283284	broad.mit.edu	37	11	18730998	18730998	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18730998C>T	ENST00000513874.1	-	18	3073	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	877										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGCCTCATTCACAGCCCGGA	0.582000													16	36					0	0	0.000958276	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72008476	72008476	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:72008476G>A	ENST00000378743.3	-	30	5723	c.5365C>T	c.(5365-5367)Ctt>Ttt	p.L1789F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1789					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAAAGACAAGATAACTGCCA	0.353000													39	72					0	0	0.000374591	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43840439	43840439	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:43840439G>A	ENST00000389420.3	-	15	2155	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S719L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	719	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCTTGCATGAAGAGTTGTC	0.378000													19	35					0	0	0.00047179	0	0
GABRB1	2560	broad.mit.edu	37	4	47427982	47427982	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:47427982C>T	ENST00000295454.3	+	9	1664	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P388S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	458					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGTTTTTCCCCATCACCTT	0.453000													34	46					0	0	0.000437636	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180651	142180651	+	RNA	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:142180651C>T	ENST00000390368.2	-	0	273																											ATACCAGCACCAACTGAGTAA	0.532000													52	124					0	0	0.000781405	0	0
KIAA0141	9812	broad.mit.edu	37	5	141307820	141307820	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:141307820C>T	ENST00000432126.2	+	4	503	c.369C>T	c.(367-369)ccC>ccT	p.P123P	KIAA0141_ENST00000194118.4_Silent_p.P123P	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	123					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACAGTCCCCTGGACCGTT	0.632000													21	26					0	0	0.000229342	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718157	142718157	+	Silent	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:142718157G>T	ENST00000381779.4	-	2	993	c.768C>A	c.(766-768)acC>acA	p.T256T	SLITRK4_ENST00000338017.4_Silent_p.T256T|SLITRK4_ENST00000356928.1_Silent_p.T256T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	256	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTTTGTTGGTTTCTTTTA	0.458000													7	36					2.0095e-06	2.70478e-05	8.12818e-05	1	0
ARID2	196528	broad.mit.edu	37	12	46215212	46215212	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:46215212C>T	ENST00000334344.6	+	6	819	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ARID2_ENST00000422737.1_Missense_Mutation_p.S67F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	216					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTTTAGGATCCTTTTCCACT	0.254000			"""N, S, F"""		hepatocellular carcinoma								48	93					0	0	0.000781405	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634760	83634760	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:83634760G>A	ENST00000265362.3	-	11	1569	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R419C	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	419	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACTATTGGGCGATTGTTCATA	0.388000													30	47					0	0	0.000279167	0	0
POT1	25913	broad.mit.edu	37	7	124493162	124493162	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:124493162G>A	ENST00000357628.3	-	10	1331	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	POT1_ENST00000393329.1_Missense_Mutation_p.H114Y	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	245					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGTTTGGTATGAAGGCTATAG	0.323000													27	25					0	0	0.000184323	0	0
ME1	4199	broad.mit.edu	37	6	84108148	84108148	+	Silent	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:84108148A>T	ENST00000369705.3	-	3	416	c.300T>A	c.(298-300)atT>atA	p.I100I	ME1_ENST00000543031.1_Silent_p.I25I|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	100					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GAGTATAAACAATAGGCATGA	0.358000													19	34					0	0	0.000132079	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415018	88415018	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:88415018C>T	ENST00000418378.1	-	5	1505	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.E312K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E187K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	312					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GTCTTTTCTTCTGTCTCTTTG	0.443000													88	104					0	0	0.000781405	0	0
PSG7	5676	broad.mit.edu	37	19	43429958	43429958	+	RNA	SNP	C	C	T	rs151272638		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:43429958C>T	ENST00000406070.2	-	0	1306				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTGGAGCTTTCCTTGCCAGTG	0.468000													82	93					0	0	0.000781405	0	0
OR52L1	338751	broad.mit.edu	37	11	6007627	6007627	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6007627G>A	ENST00000332249.4	-	1	588	c.534C>T	c.(532-534)ccC>ccT	p.P178P		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACAAAATGGGGAAGGGGA	0.502000													19	43					0	0	0.000132079	0	0
CCDC178	374864	broad.mit.edu	37	18	30873194	30873194	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:30873194C>T	ENST00000383096.3	-	12	1287	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CCDC178_ENST00000406524.2_Missense_Mutation_p.E369K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E369K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E369K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E369K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E369K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E369K					coiled-coil domain containing 178																		ACTTCCTCTTCCTTCTCCTCA	0.294000													28	43					0	0	0.000878237	0	0
ZNF143	7702	broad.mit.edu	37	11	9530248	9530248	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:9530248C>T	ENST00000396602.2	+	12	1349	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	ZNF143_ENST00000396604.1_Silent_p.V409V|ZNF143_ENST00000299606.2_Silent_p.V382V|ZNF143_ENST00000396597.3_Silent_p.V379V|ZNF143_ENST00000530463.1_Silent_p.V409V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	410					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)		ATCATGTTGTCCACACTCATT	0.443000													11	21					0	0	6.40141e-05	0	0
FH	2271	broad.mit.edu	37	1	241680603	241680603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:241680603G>A	ENST00000366560.3	-	2	184	c.146C>T	c.(145-147)tCc>tTc	p.S49F	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	49					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TATCCGGAAGGAATTTTGGCT	0.378000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				12	83					0	0	0.00010058	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455196	84455196	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:84455196G>A	ENST00000377084.2	-	1	1332	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	149						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCCTGGAAGGCCCCCGGGT	0.473000													30	43					0	0	0.000339439	0	0
GJA8	2703	broad.mit.edu	37	1	147380566	147380566	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:147380566G>A	ENST00000240986.4	+	2	537	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GJA8_ENST00000369235.1_Missense_Mutation_p.E162K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	162					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587000													112	60					0	0	0.000781405	0	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:235600750C>T	ENST00000543662.1	+	13	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.I359I|TBCE_ENST00000406207.1_Silent_p.I359I			Q15813	TBCE_HUMAN	tubulin folding cofactor E	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000													18	77					0	0	0.000958276	0	0
SPAM1	6677	broad.mit.edu	37	7	123593738	123593738	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:123593738C>T	ENST00000340011.5	+	3	471	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SPAM1_ENST00000223028.7_Silent_p.F38F|SPAM1_ENST00000460182.1_Silent_p.F38F|SPAM1_ENST00000439500.1_Silent_p.F38F|SPAM1_ENST00000402183.2_Silent_p.F38F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	38					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCTGAATTTCAGAGCACCTC	0.413000													21	31					0	0	0.000375601	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919847	12919847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:12919847G>A	ENST00000240189.2	+	3	674	c.587G>A	c.(586-588)aGa>aAa	p.R196K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	196										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAATATCTCAGAAAGTCATTG	0.388000													93	137					0	0	0.000781405	0	0
ADAM29	11086	broad.mit.edu	37	4	175897079	175897079	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:175897079G>A	ENST00000359240.3	+	5	1073	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ADAM29_ENST00000404450.4_Missense_Mutation_p.E135K|ADAM29_ENST00000445694.1_Missense_Mutation_p.E135K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E135K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	135					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTTTGCTTATGAAATCAAGCC	0.413000													24	42					0	0	0.000586117	0	0
CTSV	1515	broad.mit.edu	37	9	99800324	99800324	+	Translation_Start_Site	SNP	A	A	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:99800324A>C	ENST00000259470.5	-	2	251	c.2T>G	c.(1-3)aTg>aGg	p.M1R	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Start_Codon_SNP_p.M1R	NM_001333.3	NP_001324.2			cathepsin V																		CGAAAGATTCATGTTTCAAAA	0.398000													22	36					0	0	0.000375601	0	0
POTEF	728378	broad.mit.edu	37	2	130832395	130832395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:130832395C>T	ENST00000357462.5	-	15	2743	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	POTEF_ENST00000409914.2_Missense_Mutation_p.E884K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	884	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCAGGCAGTTCCCGCCCAGCC	0.592000													17	6					0	0	0.000422831	0	0
XIST	7503	broad.mit.edu	37	X	73071002	73071002	+	RNA	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:73071002C>T	ENST00000429829.1	-	0	1586					NR_001564.2																						GTCCATCCCACCTTTTCTCCC	0.498000													79	18					0	0	0.000781405	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													5	67					0	0	8.12818e-05	0	0
MYLK	4638	broad.mit.edu	37	3	123385073	123385073	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:123385073C>T	ENST00000360772.3	-	23	4202	c.3824G>A	c.(3823-3825)cGa>cAa	p.R1275Q	MYLK_ENST00000475616.1_Missense_Mutation_p.R1275Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1275Q|MYLK_ENST00000360304.3_Missense_Mutation_p.R1275Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R75Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1206Q			Q15746	MYLK_HUMAN	myosin light chain kinase	1275	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.R1275Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GACCTGCTTTCGGAACTTCAT	0.562000													15	28					0	0	0.000566183	0	0
COL24A1	255631	broad.mit.edu	37	1	86308024	86308024	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:86308024C>T	ENST00000370571.2	-	40	3881	c.3516_splice	c.e40+1	p.R1172_splice	COL24A1_ENST00000436319.1_Splice_Site_p.R1172_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1172	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATACTTACCCTGTACCCTGG	0.299000													16	35					0	0	0.000132079	0	0
WDR70	55100	broad.mit.edu	37	5	37725129	37725129	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:37725129C>T	ENST00000265107.4	+	16	1847	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	564										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGCATAAACCTGAACCTCCT	0.537000													19	36					0	0	0.000132079	0	0
EPHA6	285220	broad.mit.edu	37	3	97202786	97202786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:97202786C>T	ENST00000389672.5	+	10	2121	c.2083C>T	c.(2083-2085)Ccg>Tcg	p.P695S	EPHA6_ENST00000442602.2_Missense_Mutation_p.P61S|EPHA6_ENST00000514100.1_Missense_Mutation_p.P87S|EPHA6_ENST00000502694.1_Missense_Mutation_p.P87S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	600	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGCGCTTCCCGGGAATTAA	0.373000													19	42					0	0	0.000175454	0	0
ZNF816	125893	broad.mit.edu	37	19	53454821	53454821	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:53454821G>A	ENST00000357666.4	-	5	507	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.S69S|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTCCATCATGGATTTTAAAG	0.338000													28	56					0	0	0.000409698	0	0
ABCA13	154664	broad.mit.edu	37	7	48391796	48391796	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:48391796C>T	ENST00000435803.1	+	31	10424	c.10400C>T	c.(10399-10401)tCc>tTc	p.S3467F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3467					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCAATTCCTTATTCGAC	0.463000													36	59					0	0	0.000953801	0	0
RP1L1	94137	broad.mit.edu	37	8	10470663	10470663	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:10470663C>T	ENST00000382483.3	-	4	1168	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	315					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGTCCTCATTCATGCGGACCT	0.672000													38	64					0	0	0.000814825	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606443	2606443	+	Splice_Site	SNP	G	G	C	rs120074183		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:2606443G>C	ENST00000155840.5	+	8	1142	c.1032_splice	c.e8-1	p.G345_splice	KCNQ1_ENST00000335475.5_Splice_Site_p.G218_splice	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	345			G -> E (in LQT1).|G -> R (in LQT1; familial sudden death).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCTTCCCAGGGGATTCTTGGC	0.632000													44	93					0	0	0.000781405	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794081	21794081	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:21794081C>T	ENST00000206660.6	+	16	2459	c.2459C>T	c.(2458-2460)cCc>cTc	p.P820L	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P782L|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P820L|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P179L|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	820	C2.				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)		GGAACTCAACCCAGTCCATAT	0.512000													10	19					0	0	0.000442599	0	0
ODF4	146852	broad.mit.edu	37	17	8243741	8243741	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:8243741C>T	ENST00000328248.2	+	1	560	c.372C>T	c.(370-372)atC>atT	p.I124I	ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	124					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GCAACAGAATCCACACATCAG	0.537000													22	25					0	0	0.00047179	0	0
DSG1	1828	broad.mit.edu	37	18	28935265	28935265	+	Nonsense_Mutation	SNP	C	C	T	rs144199555		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:28935265C>T	ENST00000257192.4	+	15	3318	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R395*|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1036					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGCACAGCTCGAAGTCGAAT	0.498000													16	34					0	0	0.000175454	0	0
WNT9B	7484	broad.mit.edu	37	17	44952677	44952677	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:44952677G>A	ENST00000393461.2	+	3	598	c.545G>A	c.(544-546)gGa>gAa	p.G182E	WNT9B_ENST00000290015.2_Missense_Mutation_p.G182E			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	182					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCCAAGAGAGGAAACAAGGAC	0.637000													6	21					0	0	0.000157383	0	0
SLIT2	9353	broad.mit.edu	37	4	20493518	20493518	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:20493518G>A	ENST00000504154.1	+	9	1162	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E304K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E308K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E308K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	304					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						GACCATCACAGAAATGTATGT	0.458000													25	37					0	0	0.000279167	0	0
SNAP25	6616	broad.mit.edu	37	20	10279981	10279981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:10279981G>A	ENST00000254976.2	+	7	684	c.473G>A	c.(472-474)gGg>gAg	p.G158E	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.G158E	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	158	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGCATCATCGGGAACCTCCGT	0.502000													36	36					0	0	0.00058488	0	0
FCRL4	83417	broad.mit.edu	37	1	157559066	157559066	+	Missense_Mutation	SNP	C	C	T	rs145332965		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:157559066C>T	ENST00000271532.1	-	3	370	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	79	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.E79K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGTCCAGATTCCCGAACCTCG	0.502000													84	28					0	0	0.000781405	0	0
CLCA4	22802	broad.mit.edu	37	1	87045664	87045664	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:87045664A>T	ENST00000370563.3	+	14	2438	c.2396A>T	c.(2395-2397)gAt>gTt	p.D799V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	799						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGTATTCTTGATCTAAGAGAC	0.338000													23	41					0	0	0.000295444	0	0
EYA2	2139	broad.mit.edu	37	20	45702966	45702966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45702966C>T	ENST00000327619.5	+	7	1027	c.653C>T	c.(652-654)tCa>tTa	p.S218L	EYA2_ENST00000357410.3_Missense_Mutation_p.S218L|EYA2_ENST00000317304.6_Missense_Mutation_p.S218L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	218					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGTTCCGAGTCACTTGCTGGT	0.592000													22	50					0	0	0.000720815	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	G	A	rs147779020	by1000genomes	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:112777075G>A	ENST00000295408.4	+	16	2422	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_ENST00000409780.1_Missense_Mutation_p.R546Q|MERTK_ENST00000421804.2_Missense_Mutation_p.R722Q			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000													22	41					0	0	0.000229342	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2911408	2911408	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:2911408G>A	ENST00000254695.8	+	17	1553	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G469E|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G488E|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G473E	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	488					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTTGAGAATGGAGGCCACGGG	0.587000													33	38					0	0	0.000953801	0	0
RASEF	158158	broad.mit.edu	37	9	85615844	85615844	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:85615844C>T	ENST00000376447.3	-	10	1664	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	468					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAAAGCTCTCCTGCACCCCGT	0.502000													17	26					0	0	0.000958276	0	0
DRD3	1814	broad.mit.edu	37	3	113890624	113890624	+	Silent	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:113890624A>G	ENST00000383673.2	-	2	646	c.216T>C	c.(214-216)gcT>gcC	p.A72A	DRD3_ENST00000295881.7_Silent_p.A72A|DRD3_ENST00000460779.1_Silent_p.A72A|DRD3_ENST00000467632.1_Silent_p.A72A	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	72					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTCTGCCACAGCCAGGCTCA	0.562000													28	44					0	0	0.000720815	0	0
THSD7B	80731	broad.mit.edu	37	2	137928435	137928435	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:137928435G>A	ENST00000409968.1	+	7	1828	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.G519G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G550G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCAGAAGGGATCTGTTTCC	0.537000													22	19					0	0	0.000175454	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764870	92764870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:92764870C>T	ENST00000318238.4	-	5	1631	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E139K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E139K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	139										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACACATTTTCTTTCATAAGA	0.323000													33	41					0	0	0.000409698	0	0
FLRT2	23768	broad.mit.edu	37	14	86089489	86089489	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:86089489C>T	ENST00000330753.4	+	2	2398	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	544					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTCTGCTGGCGGGCTTGATC	0.597000													32	65					0	0	0.000692331	0	0
TSPAN5	10098	broad.mit.edu	37	4	99428861	99428861	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:99428861G>C	ENST00000305798.3	-	2	502	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	RP11-724M22.1_ENST00000505408.1_RNA|TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	34						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CCAATTCCAAGAAATGTTATT	0.328000													16	100					0	0	0.000132079	0	0
PDE2A	5138	broad.mit.edu	37	11	72297172	72297172	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:72297172G>A	ENST00000334456.5	-	14	1369	c.1124C>T	c.(1123-1125)aCc>aTc	p.T375I	PDE2A_ENST00000540345.1_Missense_Mutation_p.T366I|PDE2A_ENST00000544570.1_Missense_Mutation_p.T368I|PDE2A_ENST00000418754.2_Missense_Mutation_p.T260I|PDE2A_ENST00000444035.2_Missense_Mutation_p.T366I|PDE2A_ENST00000376450.3_Missense_Mutation_p.T119I|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	375	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGTGAGCACGGTGCTGGTGTA	0.602000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	75					0	0	0.000781405	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283674	47283674	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47283674G>A	ENST00000271153.4	+	10	1278	c.1242G>A	c.(1240-1242)agG>agA	p.R414R	CYP4B1_ENST00000371919.4_Silent_p.R400R|CYP4B1_ENST00000452782.2_Silent_p.R252R|CYP4B1_ENST00000371923.4_Silent_p.R415R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	414					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)					CCCTCCATAGGAACAGTGCTG	0.587000													27	49					0	0	0.000147802	0	0
BTNL8	79908	broad.mit.edu	37	5	180374696	180374696	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:180374696C>T	ENST00000231229.4	+	4	1092	c.858C>T	c.(856-858)ctC>ctT	p.L286L	BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Silent_p.L286L|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	143	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGATGCTCCCACATCCAG	0.493000													61	127					0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1480882	1480882	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:1480882G>A	ENST00000345913.4	+	8	935	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	TPO_ENST00000382201.3_Missense_Mutation_p.A282T|TPO_ENST00000337415.3_Missense_Mutation_p.A282T|TPO_ENST00000329066.4_Missense_Mutation_p.A282T|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A282T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	282					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGCCGGCCGCGGGCACCGC	0.701000													9	15					0	0	0.000673444	0	0
INPP5D	3635	broad.mit.edu	37	2	234085942	234085942	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:234085942G>A	ENST00000359570.5	+	20	1985	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	INPP5D_ENST00000455936.2_Missense_Mutation_p.R426Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.R426Q|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	674					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGGTGTGACCGAGTCCTCTGG	0.418000													31	66					0	0	0.000228196	0	0
ART4	420	broad.mit.edu	37	12	14982347	14982347	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:14982347G>A	ENST00000228936.4	-	3	1284	c.903C>T	c.(901-903)tcC>tcT	p.S301S	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	301					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGGTCAAAAAGGAGAGAGATG	0.294000													18	37					0	0	0.000375601	0	0
NLRP12	91662	broad.mit.edu	37	19	54312959	54312959	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:54312959A>G	ENST00000324134.6	-	3	2122	c.1954T>C	c.(1954-1956)Ttc>Ctc	p.F652L	NLRP12_ENST00000391773.1_Missense_Mutation_p.F652L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F652L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F652L|NLRP12_ENST00000535162.1_Missense_Mutation_p.F652L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F652L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F652L|NLRP12_ENST00000354278.3_Missense_Mutation_p.F652L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	652					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)		TTCAGACAGAACGAGGAGACC	0.622000													11	24					0	0	0.000308642	0	0
TCF7L2	6934	broad.mit.edu	37	10	114849277	114849277	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:114849277T>C	ENST00000355717.4	+	5	1109	c.602T>C	c.(601-603)gTt>gCt	p.V201A	TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000355995.4_Intron|TCF7L2_ENST00000369395.1_Missense_Mutation_p.V202A|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000352065.5_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000349937.2_Intron	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	184	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTACAAAAAGTTGGGGAGCCC	0.507000			T	VTI1A	colorectal								55	97					0	0	0.000781405	0	0
CEP76	79959	broad.mit.edu	37	18	12699099	12699099	+	Silent	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:12699099A>G	ENST00000262127.2	-	4	624	c.399T>C	c.(397-399)tgT>tgC	p.C133C	RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	133					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAACGTTGAACAAACTTGTC	0.393000													35	53					0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9070578	9070578	+	Missense_Mutation	SNP	G	G	A	rs141378906	by1000genomes	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9070578G>A	ENST00000397910.4	-	3	17071	c.16868C>T	c.(16867-16869)cCc>cTc	p.P5623L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5625	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5623R(2)|p.P1256R(1)		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						TTCCACAGGGGGAGTTGTCAT	0.537000													8	9					0	0	0.000157383	0	0
OR52E2	119678	broad.mit.edu	37	11	5079927	5079927	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5079927C>T	ENST00000321522.2	-	1	930	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTCCTTGTTCCTGCAATAAT	0.348000													36	56					0	0	0.000953801	0	0
A4GALT	53947	broad.mit.edu	37	22	43089715	43089715	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:43089715G>A	ENST00000401850.1	-	2	732	c.243C>T	c.(241-243)ttC>ttT	p.F81F	A4GALT_ENST00000249005.2_Silent_p.F81F|A4GALT_ENST00000381278.3_Silent_p.F81F			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	81					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AAGTCTCCAGGAAGAAGATGT	0.612000													16	25					0	0	0.000566183	0	0
GPM6A	2823	broad.mit.edu	37	4	176594896	176594896	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:176594896C>T	ENST00000280187.7	-	4	367	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	GPM6A_ENST00000515090.1_Missense_Mutation_p.G101R|GPM6A_ENST00000506894.1_Missense_Mutation_p.G97R|GPM6A_ENST00000393658.2_Missense_Mutation_p.G108R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	108						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTGATGGCCCCAGTTGTGAAG	0.433000													9	26					0	0	0.000442599	0	0
ABCF3	55324	broad.mit.edu	37	3	183907661	183907661	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:183907661C>T	ENST00000429586.2	+	14	1518	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.R439C	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	445							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACCGGTTTCGCTACAATGC	0.557000													18	22					0	0	0.000175454	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798740	96798740	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:96798740G>A	ENST00000371270.3	-	8	1299	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P300L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	402					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTTGGATTAGGAAATTCTTT	0.378000													25	42					0	0	0.000720815	0	0
FLG	2312	broad.mit.edu	37	1	152275460	152275460	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:152275460C>T	ENST00000368799.1	-	3	11937	c.11902G>A	c.(11902-11904)Ggt>Agt	p.G3968S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3968					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGACCTTTTTGCCTT	0.428000									Ichthyosis				34	144					0	0	0.000191422	0	0
KANSL1	284058	broad.mit.edu	37	17	44110807	44110807	+	Nonsense_Mutation	SNP	G	G	A	rs143533965		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:44110807G>A	ENST00000262419.6	-	12	3156	c.2686C>T	c.(2686-2688)Cag>Tag	p.Q896*	KANSL1_ENST00000393476.3_Nonsense_Mutation_p.Q190*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.Q896*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.Q832*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.Q896*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.Q896*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	896						MLL1 complex	protein binding	p.Q896*(1)									TTCAGAGACTGAAGATCAACC	0.483000													8	15					0	0	0.000442599	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363157	22363157	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22363157G>A	ENST00000390438.2	+	0	416																											TCCACCTGACGAAACCCTCAG	0.507000													57	43					0	0	0.000781405	0	0
C5orf42	65250	broad.mit.edu	37	5	37108561	37108561	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:37108561G>A	ENST00000274258.7	-	51	9532	c.5945C>T	c.(5944-5946)cCg>cTg	p.P1982L	C5orf42_ENST00000425232.2_Missense_Mutation_p.P3084L|C5orf42_ENST00000508244.1_Missense_Mutation_p.P3084L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3084								p.P3084Q(1)|p.P1982Q(1)|p.P3084L(1)|p.P1982L(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTATGACACGGAGCATTAGA	0.403000													30	48					0	0	0.000409698	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378854	101378854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:101378854G>A	ENST00000312938.4	-	6	2399	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCACTGTACTGAAACTGTTTT	0.358000													31	63					0	0	0.000692331	0	0
MACROD2	140733	broad.mit.edu	37	20	15412056	15412056	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:15412056C>T	ENST00000217246.4	+	7	942	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	MACROD2_ENST00000310348.4_Missense_Mutation_p.P183S|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	183	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACAGGCATTTCCCTGCATCTC	0.308000													59	86					0	0	0.000781405	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			32	76					0	0	0.00058488	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089484	115089484	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:115089484A>T	ENST00000361283.1	+	3	476	c.167A>T	c.(166-168)cAg>cTg	p.Q56L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	56					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ATATTTTACCAGAAAAGTGCA	0.393000													14	23					0	0	0.000151284	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420820	55420820	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:55420820C>T	ENST00000242994.3	+	2	975	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	199					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCATCTCTGTCCACAACTTCA	0.502000													34	55					0	0	0.000814825	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281711	69281711	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:69281711C>T	ENST00000433211.1	-	5	642	c.468G>A	c.(466-468)agG>agA	p.R156R	CTNNA3_ENST00000545309.1_Silent_p.R156R|CTNNA3_ENST00000373744.4_Silent_p.R156R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	156					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTCAAATGTCCTTTGAAACT	0.378000													17	28					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9062601G>A	ENST00000397910.4	-	3	25048	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8284	Ser-rich.|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						TAATGTAGAGGAAACAGGAGA	0.512000													24	20					0	0	0.00047179	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539312	86539312	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:86539312C>T	ENST00000450689.2	-	16	2360	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	KIAA1324L_ENST00000416314.1_Silent_p.K558K|KIAA1324L_ENST00000444627.1_Silent_p.K654K|KIAA1324L_ENST00000297222.6_Silent_p.K485K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	725						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGCCATCTTCTTCCCCTAGG	0.383000													13	14					0	0	0.000151284	0	0
SGK223	157285	broad.mit.edu	37	8	8185915	8185915	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:8185915G>A	ENST00000520004.1	-	5	2641	c.2377C>T	c.(2377-2379)Ccg>Tcg	p.P793S	SGK223_ENST00000330777.4_Missense_Mutation_p.P793S			Q86YV5	SG223_HUMAN		793							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAAGGAAACGGAACGGGAGCA	0.607000													15	18					0	0	0.000308642	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9931303	9931303	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:9931303G>A	ENST00000377263.1	-	5	440	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	43					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647000													7	7					0	0	0.000442599	0	0
MYL6	4637	broad.mit.edu	37	12	56552317	56552317	+	Silent	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:56552317T>C	ENST00000536128.1	+	1	172	c.132T>C	c.(130-132)ggT>ggC	p.G44G	MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549566.1_Silent_p.G44G|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAGGTGGGGTTGGAAAGACT	0.597000													12	8					0	0	6.40141e-05	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781789	128781789	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:128781789C>T	ENST00000529694.1	+	2	997	c.621C>T	c.(619-621)gtC>gtT	p.V207V	KCNJ5_ENST00000338350.4_Silent_p.V207V|KCNJ5_ENST00000533599.1_Silent_p.V207V	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	207					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACAACGCAGTCATCTCCATGC	0.577000													24	30					0	0	0.000586117	0	0
USP8	9101	broad.mit.edu	37	15	50786354	50786354	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:50786354C>T	ENST00000433963.1	+	17	3035	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	USP8_ENST00000396444.3_Silent_p.I845I|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.I739I|USP8_ENST00000307179.4_Silent_p.I845I	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	845					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATAGATATATCAGTCCAAAGG	0.393000													45	66					0	0	0.000589545	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120283	142120283	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:142120283G>A	ENST00000390377.1	-	0	38																											CTGTCCCTAGGAAACCCAGGA	0.498000													42	77					0	0	0.000781405	0	0
CASP7	840	broad.mit.edu	37	10	115489090	115489090	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:115489090C>T	ENST00000369321.2	+	8	1122	c.802C>T	c.(802-804)Cca>Tca	p.P268S	CASP7_ENST00000452490.2_Missense_Mutation_p.P210S|CASP7_ENST00000369315.1_Missense_Mutation_p.P235S|CASP7_ENST00000369318.3_Missense_Mutation_p.P235S|CASP7_ENST00000369331.4_Silent_p.A223A|CASP7_ENST00000345633.4_Missense_Mutation_p.P235S	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	235					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GTGGAGGAGCCCAGGAAGAGG	0.507000													36	85					0	0	0.000374591	0	0
OR51B4	79339	broad.mit.edu	37	11	5322389	5322389	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5322389T>A	ENST00000380224.1	-	1	837	c.788A>T	c.(787-789)aAa>aTa	p.K263I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTGCATGTTTCCCAAACCT	0.423000													18	33					0	0	0.000229342	0	0
OR1N2	138882	broad.mit.edu	37	9	125315727	125315727	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125315727C>T	ENST00000373688.2	+	1	337	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTTCTGCCTCCATCCCCA	0.483000													68	96					0	0	0.000781405	0	0
OR13C8	138802	broad.mit.edu	37	9	107332096	107332096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:107332096C>T	ENST00000335040.1	+	1	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TAATTTCCATCTCTTACATAT	0.403000													42	55					0	0	0.000319135	0	0
TCF20	6942	broad.mit.edu	37	22	42606603	42606603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:42606603G>A	ENST00000359486.3	-	1	4845	c.4709C>T	c.(4708-4710)tCt>tTt	p.S1570F	TCF20_ENST00000335626.4_Missense_Mutation_p.S1570F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCATCTGCAGAACCTTCTGG	0.542000													40	62					0	0	0.000270559	0	0
PEG3	5178	broad.mit.edu	37	19	57328348	57328348	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:57328348G>A	ENST00000326441.9	-	10	1825	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	PEG3_ENST00000598410.1_Missense_Mutation_p.H364Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H488Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H362Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	488					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACACTGTGGATAAAGGAC	0.463000													53	79					0	0	0.000781405	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:1926121G>A	ENST00000399161.2	-	10	2167	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P474S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000													36	59					0	0	0.000953801	0	0
GSTM5	2949	broad.mit.edu	37	1	110255773	110255773	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:110255773G>A	ENST00000369812.5	+	3	216	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	GSTM5_ENST00000256593.3_Missense_Mutation_p.E49K|GSTM5_ENST00000369813.1_5'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	49	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGGCTGAATGAAAAATTCAA	0.572000													19	38					0	0	0.000295444	0	0
GABRA6	2559	broad.mit.edu	37	5	161119083	161119083	+	Silent	SNP	C	C	T	rs148840190		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:161119083C>T	ENST00000523217.1	+	8	1175	c.933C>T	c.(931-933)ttC>ttT	p.F311F	GABRA6_ENST00000274545.5_Silent_p.F321F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	321					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.F321F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATCGAGTTCGCAGCTGTCA	0.478000										TCGA Ovarian(5;0.080)			28	48					0	0	0.000227799	0	0
TRHDE	29953	broad.mit.edu	37	12	72969300	72969300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:72969300G>A	ENST00000261180.4	+	12	2260	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	722					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						GGGCTTGATCGATGATGCCTT	0.388000													27	50					0	0	0.000279167	0	0
WFS1	7466	broad.mit.edu	37	4	6302868	6302868	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6302868C>T	ENST00000226760.1	+	8	1516	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	WFS1_ENST00000503569.1_Missense_Mutation_p.T449I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	449					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGCCTGAGCACCCATGCAGAG	0.632000													88	136					0	0	0.000781405	0	0
FBP1	2203	broad.mit.edu	37	9	97369103	97369103	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:97369103G>A	ENST00000415431.1	-	6	928	c.699C>T	c.(697-699)ttC>ttT	p.F233F	FBP1_ENST00000375326.4_Silent_p.F233F	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	233			F -> I (in dbSNP:rs2297085).		gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTACTGGGGGGAACTTCTTCC	0.562000													5	11					0	0	0.000602214	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000													36	49					0	0	0.000270559	0	0
MYO1C	4641	broad.mit.edu	37	17	1381191	1381191	+	Silent	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:1381191C>A	ENST00000359786.5	-	13	1800	c.1476G>T	c.(1474-1476)tcG>tcT	p.S492S	MYO1C_ENST00000438665.2_Silent_p.S473S|MYO1C_ENST00000361007.2_Silent_p.S457S|MYO1C_ENST00000575158.1_Silent_p.S457S|MYO1C_ENST00000545534.2_Silent_p.S468S	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	492	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCACCAAAATCGAGATGATGC	0.572000													25	82					3.57733e-08	4.83153e-07	0.000279167	1	0
LRP1B	53353	broad.mit.edu	37	2	141625375	141625375	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:141625375C>T	ENST00000389484.3	-	27	5334	c.4363G>A	c.(4363-4365)Gat>Aat	p.D1455N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1455					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTTCCATCATAGAGGGCT	0.393000										TSP Lung(27;0.18)			27	39					0	0	0.000184323	0	0
TFF2	7032	broad.mit.edu	37	21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:43767708C>T	ENST00000291526.4	-	3	433	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	88	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602000													15	26					0	0	0.000422831	0	0
C15orf41	84529	broad.mit.edu	37	15	37100597	37100597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:37100597C>T	ENST00000563167.1	+	2	235	c.76C>T	c.(76-78)Cct>Tct	p.P26S	C15orf41_ENST00000566621.1_Silent_p.I263I|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Silent_p.I165I|C15orf41_ENST00000437989.2_Silent_p.I263I|C15orf41_ENST00000562489.1_Silent_p.I87I|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000338183.4_Silent_p.I165I|C15orf41_ENST00000567389.1_Silent_p.I165I|C15orf41_ENST00000569302.1_Silent_p.I269I			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	226							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AAAGGGGCATCCTGCTCAAAG	0.478000													14	21					0	0	0.000151284	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:155203356C>T	ENST00000460012.1	-	22	3030	c.2673G>A	c.(2671-2673)agG>agA	p.R891R	PLCH1_ENST00000414191.1_Silent_p.R891R|PLCH1_ENST00000340059.7_Silent_p.R929R|PLCH1_ENST00000334686.6_Silent_p.R891R|PLCH1_ENST00000494598.1_Silent_p.R909R|PLCH1_ENST00000447496.2_Silent_p.R929R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	929					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCTTTTTCCTGCCTTTGG	0.498000													30	43					0	0	0.000339439	0	0
PDE8B	8622	broad.mit.edu	37	5	76621535	76621535	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:76621535G>A	ENST00000264917.5	+	3	616	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PDE8B_ENST00000340978.3_Missense_Mutation_p.D191N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D171N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D191N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D191N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	191					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCAGAACTTCGATGCAGAAGC	0.333000													86	144					0	0	0.000781405	0	0
SYNE2	23224	broad.mit.edu	37	14	64681167	64681167	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:64681167C>T	ENST00000357395.3	+	107	19611	c.8467C>T	c.(8467-8469)Cca>Tca	p.P2823S	SYNE2_ENST00000394768.2_Missense_Mutation_p.P2823S|SYNE2_ENST00000554584.1_Missense_Mutation_p.P6380S|SYNE2_ENST00000344113.4_Missense_Mutation_p.P6438S|SYNE2_ENST00000555022.1_Missense_Mutation_p.P316S|SYNE2_ENST00000458046.2_Missense_Mutation_p.P72S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.P6438S|SYNE2_ENST00000554805.1_Missense_Mutation_p.P221S|SYNE2_ENST00000555002.1_Missense_Mutation_p.P3072S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6438					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGAGGAGGGCCCATACTACAG	0.612000													9	18					0	0	0.000274275	0	0
RUNX3	864	broad.mit.edu	37	1	25228878	25228878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:25228878G>A	ENST00000399916.1	-	6	1463	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	RUNX3_ENST00000338888.3_Missense_Mutation_p.S342F|RUNX3_ENST00000308873.6_Missense_Mutation_p.S328F|RUNX3_ENST00000540420.1_Missense_Mutation_p.S235F	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	328	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTGGTAGGGGGACGGGTTGGC	0.692000													12	21					0	0	0.00010058	0	0
ZNF623	9831	broad.mit.edu	37	8	144733649	144733649	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:144733649T>A	ENST00000501748.2	+	1	1696	c.1607T>A	c.(1606-1608)tTa>tAa	p.L536*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.L496*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.L496*	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGGTAACTTATAAAATAAT	0.413000													44	7					0	0	0.000781405	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871252	54871252	+	Missense_Mutation	SNP	G	G	A	rs41277453		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:54871252G>A	ENST00000474759.1	+	15	1513	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E395K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E489K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E489K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	489	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAAGCAGAACGAAACCGTGAG	0.517000													48	90					0	0	0.000781405	0	0
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:42259489C>T	ENST00000392935.3	+	7	653	c.510C>T	c.(508-510)ttC>ttT	p.F170F	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000521158.1_Silent_p.F170F	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463000													18	26					0	0	0.00074312	0	0
CALCRL	10203	broad.mit.edu	37	2	188211048	188211048	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:188211048G>A	ENST00000409998.1	-	16	2030	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.R417C|CALCRL_ENST00000392370.3_Missense_Mutation_p.R417C|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	417						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GACGCACTACGAAGAGCTTCT	0.378000													18	31					0	0	0.000566183	0	0
MRPL32	64983	broad.mit.edu	37	7	42974677	42974677	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:42974677G>A	ENST00000223324.2	+	2	441	c.254G>A	c.(253-255)cGc>cAc	p.R85H	MRPL32_ENST00000496564.1_3'UTR	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	85					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	p.R85H(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AAAAATAGACGCACCATTGAA	0.423000													12	35					0	0	0.000308642	0	0
OR1L8	138881	broad.mit.edu	37	9	125330004	125330004	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:125330004G>A	ENST00000304865.2	-	1	834	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCATAAAAGAGCGTCACCA	0.463000													10	22					0	0	0.000673444	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397368	51397368	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:51397368C>T	ENST00000327536.5	-	1	105	c.6G>A	c.(4-6)ggG>ggA	p.G2G	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	2										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GCCGTGGTTTCCCCATTTGGA	0.517000													22	33					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179546404	179546404	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179546404C>T	ENST00000589042.1	-	136	33380	c.33156G>A	c.(33154-33156)aaG>aaA	p.K11052K	TTN_ENST00000591111.1_Silent_p.K10735K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K9808K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10735	Glu-rich.|Pro-rich.						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)			CCGGTGGGGCCTTTGGTTTTG	0.388000													55	73					0	0	0.000781405	0	0
KLHL40	131377	broad.mit.edu	37	3	42728221	42728221	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:42728221G>A	ENST00000287777.4	+	1	1211	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_152393.2	NP_689606.2			kelch-like family member 40																		CTTCTACAACGAAGACAACAA	0.577000													8	21					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179589021C>T	ENST00000589042.1	-	72	21305	c.21081G>A	c.(21079-21081)ggG>ggA	p.G7027G	TTN_ENST00000591111.1_Silent_p.G6710G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G5783G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6710	Ig-like 52.						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)			AGCTGCTTTTCCCAACATTAT	0.383000													16	26					0	0	0.000958276	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060251	35060251	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:35060251C>T	ENST00000373913.3	+	3	611	c.131C>T	c.(130-132)gCc>gTc	p.A44V	DLGAP4_ENST00000373907.2_Missense_Mutation_p.A44V|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A44V|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A44V			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	44					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCGCGAGGCCCGCTTCCCC	0.677000													12	16					0	0	0.000151284	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643472	15643472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:15643472C>T	ENST00000579428.1	+	9	800	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000437605.2_Intron|ZNF286A_ENST00000413242.2_Intron|AC005324.6_ENST00000433873.1_RNA			Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	0	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		TGTGAGTATTCCCGGGCAGCG	0.478000													45	55					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179612727	179612727	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179612727C>T	ENST00000360870.5	-	46	14622	c.14400G>A	c.(14398-14400)ggG>ggA	p.G4800G	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	909	Ig-like 28.						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)			ATTCCTGTGTCCCACCATCCT	0.483000													15	29					0	0	0.000308642	0	0
PTGER3	5733	broad.mit.edu	37	1	71478162	71478162	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:71478162C>T	ENST00000370924.4	-	2	1133	c.903G>A	c.(901-903)atG>atA	p.M301I	PTGER3_ENST00000370932.2_Missense_Mutation_p.M301I|PTGER3_ENST00000414819.1_Missense_Mutation_p.M301I|PTGER3_ENST00000351052.5_Missense_Mutation_p.M301I|PTGER3_ENST00000356595.4_Missense_Mutation_p.M301I|PTGER3_ENST00000460330.1_Missense_Mutation_p.M301I|PTGER3_ENST00000354608.5_Missense_Mutation_p.M301I|PTGER3_ENST00000370931.3_Missense_Mutation_p.M301I|PTGER3_ENST00000306666.5_Missense_Mutation_p.M301I	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	301					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TTTTCAACATCATTATCTAAG	0.368000													24	33					0	0	0.000586117	0	0
KCNH5	27133	broad.mit.edu	37	14	63174288	63174288	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:63174288C>T	ENST00000322893.7	-	11	3173	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	969					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.D969N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTAAAAATATCCTGACATGGT	0.368000													73	133					0	0	0.000781405	0	0
AC096579.13	0	broad.mit.edu	37	2	89160256	89160256	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:89160256G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							TCCTTAAGATGAACTAATTTT	0.388000													4	4					0	0	0.00024832	0	0
SPAG17	200162	broad.mit.edu	37	1	118583359	118583359	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:118583359C>T	ENST00000336338.5	-	22	3225	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1054						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTACCTTTTTCAAACATTGTC	0.403000													20	24					0	0	0.000132079	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264594	123264594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:123264594C>T	ENST00000264501.4	+	73	12755	c.12382C>T	c.(12382-12384)Cga>Tga	p.R4128*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R4128*			Q2LD37	K1109_HUMAN	KIAA1109	4128	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCTCTTGGCCGAAGTCGACA	0.433000													32	57					0	0	0.000491102	0	0
OR13C4	138804	broad.mit.edu	37	9	107289149	107289149	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:107289149G>A	ENST00000277216.3	-	1	341	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCATGCCAAGGAGGAAACATT	0.438000													38	52					0	0	0.000319135	0	0
KIF6	221458	broad.mit.edu	37	6	39325081	39325081	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:39325081C>T	ENST00000287152.7	-	19	2246	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	KIF6_ENST00000541946.1_Missense_Mutation_p.E169K|KIF6_ENST00000373213.4_Missense_Mutation_p.E557K|KIF6_ENST00000538893.1_Missense_Mutation_p.E662K|KIF6_ENST00000373216.3_Missense_Mutation_p.E718K|KIF6_ENST00000373215.3_Missense_Mutation_p.E701K|KIF6_ENST00000229913.5_Missense_Mutation_p.E169K|KIF6_ENST00000394362.1_Missense_Mutation_p.E169K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	718					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGACCATTCATGCTGGGAG	0.473000													47	130					0	0	0.000781405	0	0
UTS2B	257313	broad.mit.edu	37	3	190999893	190999893	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:190999893C>T	ENST00000340524.5	-	5	872	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	UTS2B_ENST00000427544.2_Missense_Mutation_p.R29Q	NM_198152.3	NP_937795.2			urotensin 2B																		AAGATATGGTCGTCCATGCAC	0.348000													4	18					0	0	0.000602214	0	0
EBF3	253738	broad.mit.edu	37	10	131638545	131638545	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:131638545G>A	ENST00000368648.3	-	15	1660	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	EBF3_ENST00000355311.5_Missense_Mutation_p.P575S	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	575	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.P575S(1)|p.P530S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTGCAGGAAGGAGGAGGAGAG	0.642000													5	4					0	0	0.000157383	0	0
HECTD3	79654	broad.mit.edu	37	1	45472388	45472388	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:45472388G>A	ENST00000372172.4	-	13	1772	c.1701C>T	c.(1699-1701)ccC>ccT	p.P567P	HECTD3_ENST00000372168.3_Silent_p.P177P	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	567	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GTACAAAGAAGGGCAGGGGCA	0.582000													11	21					0	0	0.000566183	0	0
KLHL26	55295	broad.mit.edu	37	19	18778511	18778511	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:18778511G>A	ENST00000300976.4	+	3	394	c.304G>A	c.(304-306)Gac>Aac	p.D102N	KLHL26_ENST00000599006.1_Missense_Mutation_p.D102N|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	102	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCAAGCCAGGACGTCATCGA	0.642000													29	34					0	0	0.00058488	0	0
OR56B4	196335	broad.mit.edu	37	11	6129011	6129011	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6129011G>A	ENST00000316529.3	+	1	98	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATTCCATGGATACCTCCA	0.488000													18	24					0	0	0.000229342	0	0
CD22	933	broad.mit.edu	37	19	35827142	35827142	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:35827142T>C	ENST00000085219.5	+	4	682	c.616T>C	c.(616-618)Ttc>Ctc	p.F206L	CD22_ENST00000341773.6_Missense_Mutation_p.F206L|CD22_ENST00000419549.2_Missense_Mutation_p.F34L|CD22_ENST00000270311.6_Missense_Mutation_p.F86L|CD22_ENST00000536635.2_Missense_Mutation_p.F206L|CD22_ENST00000544992.2_Missense_Mutation_p.F206L|CD22_ENST00000594250.1_Missense_Mutation_p.F206L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	206	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGAGCTCAAGTTCTCCCCACA	0.557000													12	23					0	0	6.40141e-05	0	0
MOCS3	27304	broad.mit.edu	37	20	49576008	49576008	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:49576008G>A	ENST00000244051.1	+	1	646	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	210					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCTTCGAGGGCCAAATCACA	0.622000													19	24					0	0	0.000132079	0	0
C20orf85	128602	broad.mit.edu	37	20	56728607	56728607	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:56728607C>G	ENST00000371168.3	+	2	137	c.76C>G	c.(76-78)Cgt>Ggt	p.R26G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26S(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CAGGAAATACCGTCTGAAGGC	0.483000													28	59					0	0	0.000953801	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926460	22926460	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:22926460C>T	ENST00000261374.3	+	2	1115	c.681C>T	c.(679-681)acC>acT	p.T227T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		ACATCCCGACCTTTGAGGGCC	0.612000													62	39					0	0	0.000781405	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308797	205308797	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:205308797G>A	ENST00000367156.3	-	6	1332	c.516C>T	c.(514-516)ctC>ctT	p.L172L	KLHDC8A_ENST00000539253.1_Silent_p.L172L|KLHDC8A_ENST00000460687.1_Silent_p.L38L|KLHDC8A_ENST00000367155.3_Silent_p.L172L|KLHDC8A_ENST00000537168.1_Silent_p.L59L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	172										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGAGCCTCGGAGGAAGGAGG	0.547000													27	56					0	0	0.000339439	0	0
MYH1	4619	broad.mit.edu	37	17	10415239	10415239	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:10415239G>A	ENST00000226207.5	-	14	1427	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTGATGCGGGTGACCATC	0.463000													78	92					0	0	0.000781405	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421760	62421760	+	Silent	SNP	G	G	A	rs150383808		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:62421760G>A	ENST00000245663.4	-	2	501	c.351C>T	c.(349-351)atC>atT	p.I117I	ZBTB46_ENST00000302995.2_Silent_p.I117I|ZBTB46_ENST00000395104.1_Silent_p.I117I	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCTTGCACGATGTCCGTCA	0.597000													15	12					0	0	0.000422831	0	0
CECR2	27443	broad.mit.edu	37	22	18020395	18020395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:18020395C>T	ENST00000262608.8	+	13	1727	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	CECR2_ENST00000400573.4_Missense_Mutation_p.P575L|CECR2_ENST00000400585.2_Missense_Mutation_p.P434L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	617					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCACACAGCCCCCGCGGGAG	0.602000													9	20					0	0	0.000442599	0	0
FGD2	221472	broad.mit.edu	37	6	36979567	36979567	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:36979567C>T	ENST00000274963.8	+	4	635	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	155	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAACATCTCCTCCATCTAT	0.592000													17	59					0	0	0.000958276	0	0
CSMD2	114784	broad.mit.edu	37	1	34049275	34049275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:34049275C>T	ENST00000373381.4	-	47	7383	c.7207G>A	c.(7207-7209)Gag>Aag	p.E2403K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2405	CUB 14.					integral to membrane|plasma membrane	protein binding	p.E2405*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATTGCTTCTCGCTGAGGAAG	0.502000													42	75					0	0	0.000781405	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350603	134350603	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:134350603C>T	ENST00000357304.4	+	15	3142	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1029							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTGACAAGGCCTGGGAAGCCA	0.552000													10	15					0	0	0.00010058	0	0
NLRP4	147945	broad.mit.edu	37	19	56369766	56369766	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:56369766C>T	ENST00000301295.6	+	3	1429	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	NLRP4_ENST00000587891.1_Missense_Mutation_p.S261F|NLRP4_ENST00000346986.5_Missense_Mutation_p.S336F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	336	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAGCTGTTTTCCATATGCCAA	0.473000													27	44					0	0	0.000409698	0	0
CCDC170	80129	broad.mit.edu	37	6	151869443	151869443	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:151869443G>A	ENST00000367290.5	+	5	682	c.593G>A	c.(592-594)aGa>aAa	p.R198K	CCDC170_ENST00000239374.7_Missense_Mutation_p.R198K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	198								p.R198K(1)									CTTCAGCTTAGAGACCTGCGC	0.343000													13	18					0	0	0.00074312	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868839	89868839	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:89868839G>A	ENST00000534061.1	+	2	424		c.e2+1		NAALAD2_ENST00000375944.3_Splice_Site|NAALAD2_ENST00000321955.4_Splice_Site|NAALAD2_ENST00000525171.1_Splice_Site	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CATTTCTTCGGTAAGTTTATT	0.353000													20	17					0	0	0.000958276	0	0
RXFP1	59350	broad.mit.edu	37	4	159569761	159569761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:159569761G>A	ENST00000307765.5	+	17	2118	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	RXFP1_ENST00000460056.2_Missense_Mutation_p.E542K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E590K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E518K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E575K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	623						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGTTAAAAAAGAGATGATCCT	0.343000													36	42					0	0	0.000814825	0	0
MICAL2	9645	broad.mit.edu	37	11	12263965	12263965	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:12263965G>A	ENST00000256194.4	+	19	2830	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.E848K|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	848						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAAGTGGAGGAAAAGATTCT	0.597000													10	21					0	0	0.000673444	0	0
ANXA6	309	broad.mit.edu	37	5	150518926	150518926	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:150518926G>A	ENST00000354546.5	-	4	419	c.192C>T	c.(190-192)tcC>tcT	p.S64S	ANXA6_ENST00000523714.1_Silent_p.S32S|ANXA6_ENST00000521512.1_Silent_p.S64S|ANXA6_ENST00000377751.5_Silent_p.S64S|ANXA6_ENST00000356496.5_Silent_p.S64S	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	64						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.S64S(1)|p.S116S(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGTAGAGGGACTTGTAGC	0.547000													5	21					0	0	3.59834e-05	0	0
ZNF343	79175	broad.mit.edu	37	20	2463916	2463916	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:2463916A>T	ENST00000278772.4	-	6	2178	c.1691T>A	c.(1690-1692)cTc>cAc	p.L564H	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGGACAAGGAGGAGTGATTT	0.507000													16	24					0	0	0.000566183	0	0
OR10J5	127385	broad.mit.edu	37	1	159505215	159505215	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:159505215C>T	ENST00000334857.2	-	1	627	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTATTATCTCATTGATAGTG	0.383000													15	74					0	0	0.000219431	0	0
FAM160B2	64760	broad.mit.edu	37	8	21959320	21959320	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:21959320C>T	ENST00000289921.7	+	14	1855	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	603										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGGGCCACTTCCTCCGAGTGC	0.642000													9	12					0	0	0.000274275	0	0
SETBP1	26040	broad.mit.edu	37	18	42533069	42533069	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:42533069C>T	ENST00000282030.5	+	4	4060	c.3764C>T	c.(3763-3765)cCt>cTt	p.P1255L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1255						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCAGTGAGCCTGTGGACTCA	0.517000									Schinzel-Giedion syndrome				18	21					0	0	0.000229342	0	0
CLYBL	171425	broad.mit.edu	37	13	100511253	100511253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:100511253C>T	ENST00000376355.3	+	3	419	c.388C>T	c.(388-390)Cct>Tct	p.P130S	CLYBL_ENST00000376354.1_Missense_Mutation_p.P130S|CLYBL_ENST00000339105.4_Missense_Mutation_p.P130S|CLYBL_ENST00000444838.2_Missense_Mutation_p.P130S|CLYBL_ENST00000376360.1_Missense_Mutation_p.P130S	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	130					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.P130T(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGGGTCCTTCCTTCCAGCCT	0.498000													12	14					0	0	0.000151284	0	0
MYOM2	9172	broad.mit.edu	37	8	2037889	2037889	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:2037889C>T	ENST00000262113.4	+	15	1844	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	568	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAGATCCCCGAGATATGCC	0.562000													26	29					0	0	0.000878237	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606441	2606441	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:2606441G>A	ENST00000155840.5	+	8	1140		c.e8-1		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCCTTCCCAGGGGATTCTTG	0.627000													42	93					0	0	0.000781405	0	0
SGIP1	84251	broad.mit.edu	37	1	67105490	67105490	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:67105490T>C	ENST00000371037.4	+	5	279	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.Y43H|SGIP1_ENST00000371039.1_Missense_Mutation_p.Y44H|SGIP1_ENST00000237247.6_Missense_Mutation_p.Y72H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	68					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAATGGATTTTATGCGGAAAT	0.284000													24	49					0	0	0.000227799	0	0
GNE	10020	broad.mit.edu	37	9	36222930	36222930	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:36222930G>T	ENST00000396594.3	-	9	1681	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K	GNE_ENST00000447283.2_Intron|GNE_ENST00000543356.2_Missense_Mutation_p.Q488K|GNE_ENST00000539815.1_Missense_Mutation_p.Q493K|GNE_ENST00000377902.5_Missense_Mutation_p.Q493K|GNE_ENST00000539208.1_Missense_Mutation_p.Q383K	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	493	N-acetylmannosamine kinase.		A -> V (in IBM2).		cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTCCACTCTTGGATCAGTTTG	0.517000													7	110					2.17888e-05	0.000292777	0.000442599	1	0
NFASC	23114	broad.mit.edu	37	1	204985485	204985485	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:204985485A>C	ENST00000367172.4	+	32	4190	c.3862A>C	c.(3862-3864)Acc>Ccc	p.T1288P	NFASC_ENST00000338586.6_Missense_Mutation_p.T1165P|NFASC_ENST00000404076.1_Missense_Mutation_p.T1098P|NFASC_ENST00000401399.1_Missense_Mutation_p.T1181P|NFASC_ENST00000360049.4_Missense_Mutation_p.T1110P|NFASC_ENST00000339876.6_Missense_Mutation_p.T1181P|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000513543.1_Missense_Mutation_p.T1110P|NFASC_ENST00000367171.4_Missense_Mutation_p.T1273P|NFASC_ENST00000539706.1_Missense_Mutation_p.T1115P|NFASC_ENST00000404907.1_Missense_Mutation_p.T1115P|NFASC_ENST00000367169.4_Missense_Mutation_p.T1012P|NFASC_ENST00000338515.6_Missense_Mutation_p.T1198P|NFASC_ENST00000367170.4_Missense_Mutation_p.T1209P			O94856	NFASC_HUMAN	neurofascin	1288					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTGGACGGCACCATCAAGCA	0.587000													89	69					0	0	0.000781405	0	0
TBC1D8	11138	broad.mit.edu	37	2	101644812	101644812	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:101644812G>A	ENST00000409318.1	-	13	2435	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	TBC1D8_ENST00000376840.4_Missense_Mutation_p.P754S	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	754					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACAGGGTAGGGCTCCTGGTCG	0.592000													17	14					0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76503677	76503677	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:76503677C>T	ENST00000389840.5	-	28	4559	c.4435G>A	c.(4435-4437)Gac>Aac	p.D1479N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1480N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGACGGAGTCCGCCGTGGAC	0.602000													5	9					0	0	0.000602214	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475751	140475751	+	Silent	SNP	C	C	T	rs17844374		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140475751C>T	ENST00000194155.4	+	1	1525	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTACACCCTGTTCGTCC	0.627000													29	53					0	0	0.000339439	0	0
BAI1	575	broad.mit.edu	37	8	143599604	143599604	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:143599604T>G	ENST00000517894.1	+	19	3815		c.e19+2		BAI1_ENST00000323289.5_Splice_Site			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1						axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGTGTGGAGGTGGGTGCCGCC	0.647000													15	40					0	0	0.000229342	0	0
USP6	9098	broad.mit.edu	37	17	5045313	5045313	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:5045313G>A	ENST00000574788.1	+	24	3819	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	USP6_ENST00000250066.6_Missense_Mutation_p.G530E|USP6_ENST00000304328.5_Missense_Mutation_p.G213E|USP6_ENST00000332776.4_Missense_Mutation_p.G530E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	530					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGAAAAGGGAGCCACAGGT	0.413000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								27	105					0	0	0.000491102	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308796	205308796	+	Nonsense_Mutation	SNP	G	G	A	rs149498417		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:205308796G>A	ENST00000367156.3	-	6	1333	c.517C>T	c.(517-519)Cga>Tga	p.R173*	KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R173*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R39*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R173*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R60*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	173										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGAGCCTCGGAGGAAGGAG	0.552000													27	53					0	0	0.000339439	0	0
PKD1L1	168507	broad.mit.edu	37	7	47854965	47854965	+	Silent	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:47854965T>A	ENST00000289672.2	-	47	7106	c.7056A>T	c.(7054-7056)ggA>ggT	p.G2352G	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2352					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACGGGGTGCCTCCCGGGTACA	0.552000													13	32					0	0	0.000219431	0	0
MET	4233	broad.mit.edu	37	7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:116380017G>A	ENST00000397752.3	+	4	1606	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	469	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				53	94					0	0	0.000781405	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000													23	24					0	0	0.000229342	0	0
FAM110B	90362	broad.mit.edu	37	8	59059756	59059756	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:59059756G>A	ENST00000361488.3	+	5	1847	c.967G>A	c.(967-969)Gac>Aac	p.D323N	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	323						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ACAGTCTCAGGACAGTAACAG	0.448000													46	36					0	0	0.000781405	0	0
HAO2	51179	broad.mit.edu	37	1	119936435	119936435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:119936435G>A	ENST00000361035.4	+	9	1350	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	HAO2_ENST00000325945.3_Missense_Mutation_p.R343Q|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	343					fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GAGATCAATCGAAACTTGGTC	0.478000													47	69					0	0	0.000781405	0	0
KLHL14	57565	broad.mit.edu	37	18	30260501	30260501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:30260501C>T	ENST00000359358.4	-	6	1738	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	434						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TAGCCAGTTTCATTCCTTCCA	0.478000													21	22					0	0	0.000132079	0	0
FHDC1	85462	broad.mit.edu	37	4	153897163	153897163	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:153897163C>T	ENST00000511601.1	+	12	2908	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P907L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	907					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGGTCATGCCCATCACCAAG	0.677000													7	13					0	0	0.000157383	0	0
MED12L	116931	broad.mit.edu	37	3	151102860	151102860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:151102860C>T	ENST00000474524.1	+	34	4902	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1482*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1622					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R1622*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACAAAGTTCGACAGTTACT	0.398000													54	119					0	0	0.000781405	0	0
C9	735	broad.mit.edu	37	5	39341799	39341799	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:39341799G>A	ENST00000263408.4	-	3	282	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	63	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTCTTGAACGAAACTGCACA	0.438000													20	21					0	0	0.000229342	0	0
GPR112	139378	broad.mit.edu	37	X	135439873	135439873	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:135439873G>A	ENST00000394143.1	+	10	7229	c.6938G>A	c.(6937-6939)aGa>aAa	p.R2313K	GPR112_ENST00000412101.1_Missense_Mutation_p.R2108K|GPR112_ENST00000394141.1_Missense_Mutation_p.R2108K|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.R2313K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGAACAGAGAGAAGGACAA	0.333000													79	21					0	0	0.000781405	0	0
EMC1	23065	broad.mit.edu	37	1	19577956	19577956	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:19577956C>T	ENST00000477853.1	-	1	90	c.48G>A	c.(46-48)ctG>ctA	p.L16L	EMC1_ENST00000356068.2_Silent_p.L16L|EMC1_ENST00000375199.3_Silent_p.L16L|EMC1_ENST00000375208.3_Silent_p.L16L	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		CCGCAGGAATCAGCAGCGTAG	0.607000													10	31					0	0	0.000673444	0	0
CARD8	22900	broad.mit.edu	37	19	48733815	48733815	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:48733815G>A	ENST00000391898.3	-	7	957	c.915C>T	c.(913-915)atC>atT	p.I305I	CARD8_ENST00000447740.2_Silent_p.I255I|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Silent_p.I199I|CARD8_ENST00000520753.1_Silent_p.I305I|CARD8_ENST00000521613.1_Silent_p.I255I|CARD8_ENST00000520153.1_Silent_p.I255I|CARD8_ENST00000519940.1_Silent_p.I305I|CARD8_ENST00000357778.5_Silent_p.I30I|CARD8_ENST00000520015.1_Silent_p.I305I	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	199					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCACTGGCGATCCGCAGCA	0.547000													18	23					0	0	0.000566183	0	0
MACF1	23499	broad.mit.edu	37	1	39753053	39753053	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:39753053C>T	ENST00000564288.1	+	15	2381	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	MACF1_ENST00000361689.2_Missense_Mutation_p.P540L|MACF1_ENST00000317713.7_Missense_Mutation_p.P540L|MACF1_ENST00000545844.1_Missense_Mutation_p.P540L|MACF1_ENST00000372915.3_Missense_Mutation_p.P540L|MACF1_ENST00000567887.1_Missense_Mutation_p.P572L|MACF1_ENST00000539005.1_Missense_Mutation_p.P540L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	540					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)			TTGGTTCCACCCTCTACTTTA	0.488000													65	107					0	0	0.000781405	0	0
TRIM27	5987	broad.mit.edu	37	6	28876588	28876588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:28876588G>A	ENST00000377199.3	-	6	1272	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Q306*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	306	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AATTTACCTTGGATTTTCTCC	0.373000			T	RET	papillary thyroid								48	22					0	0	0.000781405	0	0
CRAT	1384	broad.mit.edu	37	9	131860614	131860614	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:131860614G>A	ENST00000318080.2	-	10	1536	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	414					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	p.F414F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAAAATGGTGGAACACCATCA	0.597000													26	35					0	0	0.000339439	0	0
PAH	5053	broad.mit.edu	37	12	103245521	103245521	+	Missense_Mutation	SNP	C	C	T	rs62508739		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:103245521C>T	ENST00000553106.1	-	8	1328	c.856G>A	c.(856-858)Gag>Aag	p.E286K	PAH_ENST00000307000.2_Missense_Mutation_p.E281K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	286					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCCAACAGCTCATGGCAGATG	0.483000													12	33					0	0	0.000151284	0	0
UNC45A	55898	broad.mit.edu	37	15	91491967	91491967	+	Silent	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:91491967C>A	ENST00000394275.2	+	16	2611	c.1776C>A	c.(1774-1776)ccC>ccA	p.P592P	UNC45A_ENST00000418476.2_Silent_p.P607P	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	607					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGCCCGACCCCAAGATGGTGG	0.632000													10	548					0.000673444	0.0089127	0.000673444	1	0
SCAND3	114821	broad.mit.edu	37	6	28554272	28554272	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:28554272C>T	ENST00000452236.2	-	1	840	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	75	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGGCAAAGTTCCCGCAGTTGA	0.542000													21	57					0	0	0.000175454	0	0
FN1	2335	broad.mit.edu	37	2	216262425	216262425	+	Silent	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:216262425T>C	ENST00000354785.4	-	22	3864	c.3495A>G	c.(3493-3495)ccA>ccG	p.P1165P	FN1_ENST00000421182.1_Silent_p.P1165P|FN1_ENST00000357009.2_Silent_p.P1165P|FN1_ENST00000356005.4_Silent_p.P1165P|FN1_ENST00000359671.1_Silent_p.P1165P|FN1_ENST00000346544.3_Silent_p.P1165P|FN1_ENST00000432072.2_Silent_p.P1165P|FN1_ENST00000446046.1_Silent_p.P1165P|FN1_ENST00000357867.4_Silent_p.P1165P|FN1_ENST00000336916.4_Silent_p.P1165P|FN1_ENST00000443816.1_Silent_p.P1165P|FN1_ENST00000345488.5_Silent_p.P1165P|FN1_ENST00000323926.6_Silent_p.P1165P			P02751	FINC_HUMAN	fibronectin 1	1165	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTTACAATTGGCGCATCTC	0.403000													32	58					0	0	0.000953801	0	0
OR5W2	390148	broad.mit.edu	37	11	55681516	55681516	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:55681516G>A	ENST00000344514.1	-	1	542	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGGAGGGATATCACAGA	0.403000													14	33					0	0	0.000219431	0	0
TRPM2	7226	broad.mit.edu	37	21	45860701	45860701	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:45860701G>A	ENST00000397928.1	+	31	4744	c.4299G>A	c.(4297-4299)agG>agA	p.R1433R	TRPM2_ENST00000397932.2_Silent_p.R1483R|TRPM2_ENST00000300482.5_Silent_p.R1433R|TRPM2_ENST00000300481.9_Silent_p.R1379R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1433	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGACCCGAGGAACACGGACA	0.627000													27	43					0	0	0.000227799	0	0
KCTD8	386617	broad.mit.edu	37	4	44177155	44177155	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:44177155G>A	ENST00000360029.3	-	2	1357	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	358						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGTCACAACTGGAAGTGGAGA	0.463000										HNSCC(17;0.042)			29	49					0	0	0.000184323	0	0
FCGBP	8857	broad.mit.edu	37	19	40368495	40368495	+	Missense_Mutation	SNP	A	A	G	rs145372678	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:40368495A>G	ENST00000221347.6	-	28	12860	c.12853T>C	c.(12853-12855)Tct>Cct	p.S4285P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4285	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTGTGCCAGATGAAAGGGGT	0.637000													10	52					0	0	0.000422831	0	0
ZNF358	140467	broad.mit.edu	37	19	7585296	7585296	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:7585296C>T	ENST00000597229.1	+	2	1338	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.L390F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	390					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGCCTCCAGCCTCACCAAGCA	0.716000													7	17					0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92088426	92088426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:92088426G>T	ENST00000298047.6	+	1	3165	c.3148G>T	c.(3148-3150)Gga>Tga	p.G1050*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.G1050*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.G900*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.G1050*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1050	Cadherin 10.				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)				TGCTGTTGTTGGATCTGTAAA	0.498000										TCGA Ovarian(4;0.039)			9	382					0.000442599	0.00586741	0.000442599	1	0
CDC27	996	broad.mit.edu	37	17	45199825	45199825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:45199825G>A	ENST00000066544.3	-	18	2470	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*	CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q799*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q792*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q732*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	793					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGTTCTTCTTGGGTTATTGGC	0.338000													36	88					0	0	0.000374591	0	0
MUC16	94025	broad.mit.edu	37	19	9085435	9085435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9085435G>A	ENST00000397910.4	-	1	6583	c.6380C>T	c.(6379-6381)tCg>tTg	p.S2127L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2127	Ser-rich.|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						ACCTGTGACCGAGGATGCATC	0.493000													34	57					0	0	0.00058488	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389819	150389819	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:150389819G>A	ENST00000223293.5	+	3	539	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	149						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCCACAAGGAAGACCTCAA	0.537000													14	21					0	0	0.000308642	0	0
MLXIP	22877	broad.mit.edu	37	12	122622068	122622068	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:122622068C>T	ENST00000319080.6	+	12	2217	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	MLXIP_ENST00000538698.1_Silent_p.S302S			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGGAGCAGAGCCCCAGTCCTC	0.597000													24	27					0	0	0.00047179	0	0
AGXT2	64902	broad.mit.edu	37	5	35035329	35035329	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:35035329G>A	ENST00000231420.6	-	5	779	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	193					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTGATTACCTGAAAGAAATGA	0.443000													53	100					0	0	0.000781405	0	0
NLRP3	114548	broad.mit.edu	37	1	247587438	247587438	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:247587438G>A	ENST00000366497.2	+	4	1473	c.693G>A	c.(691-693)ggG>ggA	p.G231G	NLRP3_ENST00000366496.2_Silent_p.G231G|NLRP3_ENST00000391827.2_Silent_p.G231G|NLRP3_ENST00000336119.3_Silent_p.G231G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.G231G|NLRP3_ENST00000348069.2_Silent_p.G231G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	231	NACHT.				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)			CAGGGATTGGGAAAACAATCC	0.542000													14	64					0	0	0.000422831	0	0
LRBA	987	broad.mit.edu	37	4	151388899	151388899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:151388899G>A	ENST00000535741.1	-	44	7179	c.6706C>T	c.(6706-6708)Cct>Tct	p.P2236S	LRBA_ENST00000357115.3_Missense_Mutation_p.P2247S|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.P2236S|LRBA_ENST00000510413.1_Missense_Mutation_p.P2236S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2247	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATGACCCAAGGAAACACTGGA	0.333000													37	61					0	0	0.000509022	0	0
MCHR2	84539	broad.mit.edu	37	6	100368841	100368841	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:100368841C>T	ENST00000281806.2	-	6	1312	c.998G>A	c.(997-999)gGa>gAa	p.G333E	MCHR2_ENST00000445970.1_Missense_Mutation_p.G333E|MCHR2_ENST00000369212.1_Missense_Mutation_p.G333E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTGTTTCCCATATTGTT	0.408000													31	71					0	0	0.000409698	0	0
IFT140	9742	broad.mit.edu	37	16	1573573	1573573	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:1573573G>A	ENST00000426508.2	-	26	3762	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	IFT140_ENST00000361339.5_Silent_p.F327F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1133										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGCTCGATGAAGAAGTCGG	0.652000													19	15					0	0	0.000375601	0	0
ECE2	9718	broad.mit.edu	37	3	183995786	183995786	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:183995786G>A	ENST00000402825.3	+	5	906	c.906G>A	c.(904-906)gtG>gtA	p.V302V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.V230V|ECE2_ENST00000359140.4_Silent_p.V155V|ECE2_ENST00000404464.3_Silent_p.V184V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	302	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTACAGGTGGAGCGCATTG	0.577000													17	28					0	0	0.000422831	0	0
SCN10A	6336	broad.mit.edu	37	3	38783863	38783863	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:38783863G>A	ENST00000449082.2	-	13	2024	c.2025C>T	c.(2023-2025)atC>atT	p.I675I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	675					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTTCACCACGATGCACAAGG	0.532000													13	24					0	0	0.000566183	0	0
SCN1A	6323	broad.mit.edu	37	2	166848500	166848500	+	Missense_Mutation	SNP	C	C	T	rs121917950		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:166848500C>T	ENST00000423058.2	-	26	5302	c.5285G>A	c.(5284-5286)gGa>gAa	p.G1762E	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1734E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1751E|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1762E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1762			G -> E (in SMEI; dbSNP:rs121917950).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGAAAATTCCAACAGATGG	0.448000													40	65					0	0	0.000228196	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482817	152482817	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:152482817G>A	ENST00000356661.5	-	3	412	c.194C>T	c.(193-195)cCc>cTc	p.P65L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	65						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGTAGTGGGAAAGGCGGA	0.607000													49	5					0	0	0.000781405	0	0
NRXN1	9378	broad.mit.edu	37	2	50724509	50724509	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:50724509C>T	ENST00000404971.1	-	15	4300	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	NRXN1_ENST00000406859.3_Silent_p.G947G|NRXN1_ENST00000402717.3_Silent_p.G939G|NRXN1_ENST00000405472.3_Silent_p.G939G|NRXN1_ENST00000406316.2_Silent_p.G947G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.G947G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	947	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATTTCCATCCCCACTGTTAT	0.363000													26	46					0	0	0.000184323	0	0
SPEF2	79925	broad.mit.edu	37	5	35740049	35740049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:35740049G>A	ENST00000440995.2	+	22	3077	c.3077G>A	c.(3076-3078)tGg>tAg	p.W1026*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W1031*|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1031					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACCTTACTGGGAACTAATA	0.343000													16	33					0	0	0.000422831	0	0
LAMA3	3909	broad.mit.edu	37	18	21512189	21512189	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:21512189C>T	ENST00000313654.9	+	66	8883	c.8642C>T	c.(8641-8643)tCc>tTc	p.S2881F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1272F|LAMA3_ENST00000399516.3_Missense_Mutation_p.S2825F|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1216F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2881	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTCAAGTTCCCGGCAGTCT	0.458000													50	78					0	0	0.000781405	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931051	157931051	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:157931051G>A	ENST00000389413.3	-	7	1170	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A339V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A356V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A379V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A318V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	356						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCCCAGGGCCGCTCTCCC	0.672000													21	24					0	0	0.000229342	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F|ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393000													23	30					0	0	0.000720815	0	0
OR10A4	283297	broad.mit.edu	37	11	6897920	6897920	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:6897920C>T	ENST00000379829.2	+	1	65	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTGTTCTCGTGAGCTTCT	0.433000													37	64					0	0	0.000437636	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603320	47603320	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47603320C>T	ENST00000371891.3	+	1	194	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	CYP4A22_ENST00000371890.3_Missense_Mutation_p.P55S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P55S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	55						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGTGCCCTCCCTCCCACTG	0.612000													10	17					0	0	0.000673444	0	0
OR52E4	390081	broad.mit.edu	37	11	5906378	5906378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5906378C>T	ENST00000316987.2	+	1	878	c.856C>T	c.(856-858)Cct>Tct	p.P286S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGTCCCACCTGCCCTTAA	0.378000													29	52					0	0	0.000339439	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181485	32181485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:32181485C>T	ENST00000375023.3	-	14	2438	c.2300G>A	c.(2299-2301)aGc>aAc	p.S767N	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	767	EGF-like 20.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTAGTCAGTGCTGGTTTGGCA	0.567000													35	132					0	0	0.000692331	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030955	58030955	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:58030955C>T	ENST00000556826.1	-	8	1592	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	SLC35F4_ENST00000339762.6_Silent_p.K488K|SLC35F4_ENST00000554729.1_Silent_p.K329K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCTTTTCCTTCAGGCTGT	0.522000													11	15					0	0	0.000151284	0	0
SCN1A	6323	broad.mit.edu	37	2	166900412	166900412	+	Missense_Mutation	SNP	G	G	A	rs148371904		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:166900412G>A	ENST00000423058.2	-	11	1827	c.1810C>T	c.(1810-1812)Cgt>Tgt	p.R604C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R604C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R604C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R604C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	604			R -> H (in SMEI; uncertain pathological significance; dbSNP:rs121918769).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAATCTCTACGGCTCTCGTTA	0.532000													23	26					0	0	0.000229342	0	0
F2	2147	broad.mit.edu	37	11	46747657	46747657	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:46747657G>A	ENST00000311907.5	+	7	864	c.808G>A	c.(808-810)Gag>Aag	p.E270K	F2_ENST00000530231.1_Missense_Mutation_p.E270K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	270	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CGGGGATGAGGAGGGCGTGTG	0.627000													28	44					0	0	0.000491102	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793527	65793527	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:65793527G>A	ENST00000312106.5	-	1	461	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	108	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CGTAGGAACGGTGGGAGGGGA	0.607000													39	51					0	0	0.000781405	0	0
PEAR1	375033	broad.mit.edu	37	1	156880096	156880096	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:156880096G>A	ENST00000338302.3	+	15	1974	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	PEAR1_ENST00000292357.7_Silent_p.K583K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	583	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCACCTGCAAGAATGGGGGCA	0.637000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	123	50					0	0	0.000781405	0	0
SPINK5	11005	broad.mit.edu	37	5	147498037	147498037	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:147498037G>A	ENST00000359874.3	+	23	2223	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	SPINK5_ENST00000398454.1_Missense_Mutation_p.G717E|SPINK5_ENST00000256084.7_Missense_Mutation_p.G717E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	717	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAAAATGGAAGACTCAGC	0.403000													24	25					0	0	0.000295444	0	0
SERINC2	347735	broad.mit.edu	37	1	31902327	31902327	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:31902327T>G	ENST00000373710.1	+	9	1255	c.982T>G	c.(982-984)Tgg>Ggg	p.W328G	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.W323G|SERINC2_ENST00000373709.3_Missense_Mutation_p.W319G|AC114494.1_ENST00000596131.1_Silent_p.P96P|SERINC2_ENST00000536859.1_Missense_Mutation_p.W323G	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	319						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GACCCAGTGGTGGGATGCCCC	0.572000													15	26					0	0	0.000308642	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146299	5146299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:5146299G>A	ENST00000274181.7	+	3	370	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E78K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	78					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						CGTGTCCCATGAAATCATGCA	0.532000													23	25					0	0	0.000184323	0	0
TTN	7273	broad.mit.edu	37	2	179427302	179427302	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179427302C>T	ENST00000589042.1	-	326	83781	c.83557G>A	c.(83557-83559)Gaa>Aaa	p.E27853K	TTN_ENST00000591111.1_Missense_Mutation_p.E26212K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18788K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25285K|TTN_ENST00000359218.5_Missense_Mutation_p.E18913K|TTN_ENST00000342175.6_Missense_Mutation_p.E18980K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26212	Ig-like 130.						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)			TCTGTTGTTTCAGCTGGCAAA	0.418000													30	37					0	0	0.000953801	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													40	71					0	0	0.000589545	0	0
TNS3	64759	broad.mit.edu	37	7	47454806	47454806	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:47454806T>C	ENST00000398879.1	-	11	840		c.e11-2		TNS3_ENST00000458317.2_Splice_Site|TNS3_ENST00000355730.3_Splice_Site|TNS3_ENST00000311160.9_Splice_Site|TNS3_ENST00000442536.2_Splice_Site			Q68CZ2	TENS3_HUMAN	tensin 3							focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGAACATACCTGCAAAACGGA	0.537000													4	7					0	0	0.000602214	0	0
GPRC5A	9052	broad.mit.edu	37	12	13065068	13065068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:13065068C>T	ENST00000014914.5	+	3	1863	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	GPRC5A_ENST00000542056.1_3'UTR	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	325						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CACACATTTTCAGCTGCAGGT	0.468000													13	29					0	0	0.000219431	0	0
HSPA5	3309	broad.mit.edu	37	9	128003395	128003395	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:128003395G>A	ENST00000324460.6	-	1	214	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	4					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GGCCACCAGGGAGAGCTTCAT	0.677000										Prostate(1;0.17)			22	27					0	0	0.000375601	0	0
GFOD1	54438	broad.mit.edu	37	6	13365563	13365563	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:13365563G>A	ENST00000379287.3	-	2	1249	c.585C>T	c.(583-585)gtC>gtT	p.V195V	GFOD1_ENST00000379284.1_Silent_p.V92V	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	195						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GCAGCCCGTGGACCTTGACGG	0.612000													19	29					0	0	0.00074312	0	0
LTBP1	4052	broad.mit.edu	37	2	33412139	33412139	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:33412139G>A	ENST00000404816.2	+	6	1771	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	LTBP1_ENST00000407925.1_Missense_Mutation_p.G147E|LTBP1_ENST00000404525.1_Missense_Mutation_p.G147E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G147E|LTBP1_ENST00000354476.3_Missense_Mutation_p.G473E|LTBP1_ENST00000402934.1_Missense_Mutation_p.G147E|LTBP1_ENST00000418533.2_Missense_Mutation_p.G147E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	473					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCAGCAAGGAGTCAAAGGT	0.522000													11	30					0	0	0.000673444	0	0
THBS1	7057	broad.mit.edu	37	15	39881267	39881267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:39881267C>T	ENST00000260356.5	+	11	1918	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	585	EGF-like 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AAATGGCATCCAGTGCACAGA	0.532000													35	67					0	0	0.000319135	0	0
TOMM40	10452	broad.mit.edu	37	19	45406291	45406291	+	Silent	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:45406291T>C	ENST00000426677.2	+	9	1131	c.951T>C	c.(949-951)tcT>tcC	p.S317S	TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.S317S|TOMM40_ENST00000252487.5_Silent_p.S317S	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	317					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CTGCAGGCTCTGTGGATAGCA	0.602000													23	45					0	0	0.000586117	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:111353546C>T	ENST00000228841.8	-	3	189	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000													55	88					0	0	0.000781405	0	0
TBC1D9	23158	broad.mit.edu	37	4	141545347	141545347	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:141545347G>A	ENST00000442267.2	-	20	3075	c.3001C>T	c.(3001-3003)Cgt>Tgt	p.R1001C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1001						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAATAATTACGATTTTCTTGG	0.348000													10	21					0	0	0.000151284	0	0
FASN	2194	broad.mit.edu	37	17	80041110	80041110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:80041110G>A	ENST00000306749.2	-	32	5751	c.5533C>T	c.(5533-5535)Caa>Taa	p.Q1845*	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1845	Enoyl reductase (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)	TGCTTCCCTTGGGCCATGTAG	0.687000													21	53					0	0	0.000720815	0	0
CSMD2	114784	broad.mit.edu	37	1	34038143	34038143	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:34038143G>A	ENST00000373381.4	-	50	7901	c.7725C>T	c.(7723-7725)ggC>ggT	p.G2575G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2577	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTCCATAGGCCTGTGTCCA	0.592000													28	44					0	0	0.000227799	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999708	46999708	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:46999708G>A	ENST00000374314.4	+	1	1783	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GPRIN2_ENST00000374317.1_Silent_p.V276V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	276										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCATGGGGTGAAGATCCACT	0.622000													14	34					0	0	0.000308642	0	0
ZNF500	26048	broad.mit.edu	37	16	4802949	4802949	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:4802949G>A	ENST00000219478.6	-	6	1170	c.871C>T	c.(871-873)Cca>Tca	p.P291S	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.P291S			O60304	ZN500_HUMAN	zinc finger protein 500	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCTGACCTGGGAGCGGGTGG	0.677000													30	24					0	0	0.000279167	0	0
MMP9	4318	broad.mit.edu	37	20	44641983	44641983	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:44641983A>C	ENST00000372330.3	+	9	1439	c.1420A>C	c.(1420-1422)Act>Cct	p.T474P		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	474					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGACCCCCCACTGTCCACCC	0.692000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	0.000422831	0	0
POLR2B	5431	broad.mit.edu	37	4	57860646	57860646	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:57860646C>T	ENST00000381227.1	+	5	733	c.320C>T	c.(319-321)cCa>cTa	p.P107L	POLR2B_ENST00000314595.5_Missense_Mutation_p.P107L|POLR2B_ENST00000431623.2_Missense_Mutation_p.P32L|POLR2B_ENST00000441246.2_Missense_Mutation_p.P100L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	107					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCCTTCACCAATGATGCCC	0.338000													17	18					0	0	0.000132079	0	0
OR10H2	26538	broad.mit.edu	37	19	15839501	15839501	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:15839501C>T	ENST00000305899.3	+	1	668	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCATCCTCCTCTCCTATG	0.532000													34	47					0	0	0.000319135	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089509	115089509	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:115089509C>T	ENST00000361283.1	+	3	501	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	64					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TATTTCACTGCCATAAATGCT	0.378000													12	25					0	0	0.00010058	0	0
OR4C12	283093	broad.mit.edu	37	11	50003771	50003771	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:50003771G>A	ENST00000335238.4	-	1	300	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAAGGAGATGATTTTCTTCT	0.428000													49	90					0	0	0.000781405	0	0
SFTPD	6441	broad.mit.edu	37	10	81701173	81701173	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:81701173C>T	ENST00000372292.3	-	6	688	c.648G>A	c.(646-648)aaG>aaA	p.K216K		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	216	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CACTTTCTCCCTTTGCTCCTT	0.637000													9	24					0	0	0.000274275	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566427	127566427	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:127566427G>A	ENST00000373580.3	+	6	974	c.974G>A	c.(973-975)gGc>gAc	p.G325D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.G111D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	325										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAGGTGGAGGGCAGGTCCAAC	0.627000													20	23					0	0	0.00047179	0	0
NOS1	4842	broad.mit.edu	37	12	117696933	117696933	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:117696933C>T	ENST00000317775.6	-	15	3055	c.2370G>A	c.(2368-2370)gtG>gtA	p.V790V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.V790V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	790	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCATGGACATCACCTAGGTGG	0.527000													10	31					0	0	0.000442599	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275548	233275548	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:233275548C>T	ENST00000258229.8	-	20	3805	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K	PCNXL2_ENST00000488780.2_Missense_Mutation_p.E324K|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1191						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGTATTTTTCAAAACACTGA	0.368000													37	18					0	0	0.000270559	0	0
BRINP3	339479	broad.mit.edu	37	1	190203593	190203593	+	Silent	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:190203593C>A	ENST00000367462.3	-	5	864	c.633G>T	c.(631-633)cgG>cgT	p.R211R	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.R109R	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		211						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGGACCAGTCCGTGTTTCTG	0.388000													32	98					2.81731e-10	3.81157e-09	0.000339439	1	0
PIWIL4	143689	broad.mit.edu	37	11	94310540	94310540	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:94310540C>T	ENST00000299001.6	+	4	606	c.395C>T	c.(394-396)cCa>cTa	p.P132L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	132					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATATATTCCAGATTTAGCA	0.398000													20	38					0	0	0.000132079	0	0
ZNF446	55663	broad.mit.edu	37	19	58988593	58988593	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:58988593C>T	ENST00000596341.1	+	2	2228	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ZNF446_ENST00000335841.4_Missense_Mutation_p.S3F|ZNF446_ENST00000594369.1_Missense_Mutation_p.S3F			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	3					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGAATGCCATCCCCTCTGGGT	0.602000													49	82					0	0	0.000781405	0	0
GPR115	221393	broad.mit.edu	37	6	47682334	47682334	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:47682334G>A	ENST00000283303.2	+	6	1611	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	GPR115_ENST00000327753.3_Silent_p.L451L|GPR115_ENST00000371220.1_Silent_p.L508L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTCCCTTCTGACTGCCAATG	0.463000													44	220					0	0	0.000374591	0	0
LRFN2	57497	broad.mit.edu	37	6	40400383	40400383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:40400383G>A	ENST00000338305.6	-	2	1012	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	157						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTGTTGTAGGAGAGGTCCAG	0.582000													23	54					0	0	0.000375601	0	0
NOS2	4843	broad.mit.edu	37	17	26092669	26092669	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:26092669C>T	ENST00000313735.6	-	20	2553	c.2320G>A	c.(2320-2322)Ggg>Agg	p.G774R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	774	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGCAAACCCCAAGGTGCTCC	0.642000													13	27					0	0	0.000219431	0	0
GLRB	2743	broad.mit.edu	37	4	158041787	158041787	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:158041787G>A	ENST00000264428.4	+	3	472	c.202G>A	c.(202-204)Gat>Aat	p.D68N	GLRB_ENST00000509282.1_Missense_Mutation_p.D68N|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.D68N	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	68					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTCAGTTATGATCCCAGGAT	0.363000													47	70					0	0	0.000781405	0	0
DBF4B	80174	broad.mit.edu	37	17	42824500	42824500	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:42824500C>T	ENST00000315005.3	+	11	1018	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	DBF4B_ENST00000393547.2_Missense_Mutation_p.P294S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	294					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACACCATGCCCAGGAGGAA	0.607000													22	51					0	0	0.000227799	0	0
ALPK2	115701	broad.mit.edu	37	18	56204273	56204273	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:56204273G>A	ENST00000361673.3	-	5	3359	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1049							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGGAAATTGGGAAACCTTTTC	0.493000													15	42					0	0	0.000566183	0	0
MAST3	23031	broad.mit.edu	37	19	18232516	18232516	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:18232516G>C	ENST00000262811.5	+	3	93	c.93G>C	c.(91-93)aaG>aaC	p.K31N		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	31							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAACCGCAAGAGCTTGGTGG	0.677000													15	35					0	0	0.000566183	0	0
CASC1	55259	broad.mit.edu	37	12	25311445	25311445	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:25311445C>T	ENST00000354189.5	-	4	368	c.333G>A	c.(331-333)caG>caA	p.Q111Q	CASC1_ENST00000395987.3_Silent_p.Q53Q|CASC1_ENST00000320267.9_Silent_p.Q47Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Silent_p.Q7Q|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000537577.1_Intron	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	47										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTCAATTCGCTGTATTTCAA	0.294000													20	37					0	0	0.000375601	0	0
BICC1	80114	broad.mit.edu	37	10	60558926	60558926	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60558926C>T	ENST00000373886.3	+	12	1643	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	BICC1_ENST00000263103.1_Missense_Mutation_p.P173S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	547					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATCTCCCCCTCCTGGCTTGAC	0.463000													13	17					0	0	0.00010058	0	0
FGF14	2259	broad.mit.edu	37	13	102521126	102521126	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:102521126C>T	ENST00000376131.4	-	3	467	c.372G>A	c.(370-372)gtG>gtA	p.V124V	FGF14_ENST00000376143.4_Silent_p.V119V|FGF14_ENST00000468052.1_5'UTR	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	119					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCCTGTTTTCACTCCCTGGA	0.448000													31	54					0	0	0.000692331	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661302	176661302	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:176661302C>T	ENST00000367662.3	+	6	3636	c.2472C>T	c.(2470-2472)gcC>gcT	p.A824A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	824					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCAAGTGGCCCGAATGCATT	0.483000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	127					0	0	0.000175454	0	0
TRAV6	6956	broad.mit.edu	37	14	22237214	22237214	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:22237214G>A	ENST00000390428.3	+	0	298																											AAGAAAAAAGGAAAGAAAGAC	0.443000													59	48					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179542585	179542585	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:179542585G>A	ENST00000589042.1	-	146	34278	c.34054C>T	c.(34054-34056)Cta>Tta	p.L11352L	TTN_ENST00000591111.1_Silent_p.L11035L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L10108L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11035	Glu-rich.|Pro-rich.						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)			TCTTCAAATAGAACTTCCTCT	0.398000													51	71					0	0	0.000781405	0	0
NLRP1	22861	broad.mit.edu	37	17	5462258	5462258	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:5462258G>A	ENST00000345221.3	-	4	2312	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	NLRP1_ENST00000262467.5_Silent_p.F586F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.F586F|NLRP1_ENST00000269280.4_Silent_p.F586F|NLRP1_ENST00000354411.3_Silent_p.F586F|NLRP1_ENST00000577119.1_Silent_p.F586F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	586	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATCTGGACTGAAAAGGGTCT	0.532000													18	40					0	0	0.00074312	0	0
GRP	2922	broad.mit.edu	37	18	56892886	56892886	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:56892886C>T	ENST00000256857.2	+	2	400	c.302C>T	c.(301-303)cCc>cTc	p.P101L	GRP_ENST00000420468.2_Missense_Mutation_p.P101L|GRP_ENST00000529320.2_Missense_Mutation_p.P101L	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	101					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CCACCTCAACCCAAGGCCCTG	0.483000													34	68					0	0	0.000953801	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182231	182231	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:182231C>T	ENST00000283426.6	+	18	3659	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1203	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCAGCCAGTCCTCCTCCATCC	0.647000													17	25					0	0	0.000566183	0	0
FMOD	2331	broad.mit.edu	37	1	203316738	203316738	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:203316738C>T	ENST00000354955.4	-	2	1124	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	221					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GACCGGAGGCCCCTCATGGAA	0.567000													99	57					0	0	0.000781405	0	0
BRCA1	672	broad.mit.edu	37	17	41244594	41244594	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41244594G>A	ENST00000309486.4	-	9	3093	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	BRCA1_ENST00000357654.3_Missense_Mutation_p.P985L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P985L|BRCA1_ENST00000493795.1_Missense_Mutation_p.P938L|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P985L|BRCA1_ENST00000354071.3_Missense_Mutation_p.P985L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	985					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGACTTGATGGGAAAAAGTGG	0.353000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			31	64					0	0	0.000279167	0	0
GLP1R	2740	broad.mit.edu	37	6	39040656	39040656	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:39040656G>A	ENST00000373256.4	+	6	571	c.528G>A	c.(526-528)agG>agA	p.R176R		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	176					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ACTGCACCAGGAACTACATCC	0.552000													21	79					0	0	0.00047179	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591907	100591907	+	Silent	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:100591907T>C	ENST00000268070.4	-	17	2430	c.2325A>G	c.(2323-2325)ggA>ggG	p.G775G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	775	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CATAATGAATTCCATAATCTT	0.463000													47	377					0	0	0.000781405	0	0
NALCN	259232	broad.mit.edu	37	13	102029401	102029401	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr13:102029401C>T	ENST00000251127.6	-	5	463	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	NALCN_ENST00000376196.3_Missense_Mutation_p.E128K|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E128K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	128						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAGCAATTTCAAACACCTAC	0.408000													18	21					0	0	0.000175454	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283210	69283210	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:69283210C>T	ENST00000338352.2	+	1	870	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	279										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGGCCGGCGCCGCCGGGGGC	0.657000													5	1					0	0	3.59834e-05	0	0
ZNF410	57862	broad.mit.edu	37	14	74360502	74360502	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:74360502C>T	ENST00000555044.1	+	3	230	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000540593.1_Silent_p.L12L|ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000324593.6_Silent_p.L12L|ZNF410_ENST00000442160.3_Silent_p.L12L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCCCCCAGCTCCTGGTACAGT	0.408000													31	37					0	0	0.000279167	0	0
OR4L1	122742	broad.mit.edu	37	14	20528960	20528960	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20528960C>T	ENST00000315683.1	+	1	757	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTTCTTTGGACCTTGTATTTT	0.418000													52	44					0	0	0.000781405	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158857	18158857	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:18158857C>T	ENST00000396275.2	+	3	469	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	36						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582000													38	64					0	0	0.000680045	0	0
XDH	7498	broad.mit.edu	37	2	31595155	31595155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:31595155G>A	ENST00000379416.3	-	17	1843	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	599					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTCGTAGCGAGGAATGTCG	0.637000													52	83					0	0	0.000781405	0	0
C15orf43	145645	broad.mit.edu	37	15	45258395	45258395	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:45258395G>A	ENST00000340827.3	+	5	405	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	130								p.E130K(1)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GACCCTTAGGGAAAACAGTGA	0.318000													8	14					0	0	6.40141e-05	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351739	25351739	+	RNA	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:25351739G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						ACACTTCTGTGAGCTGAGGTC	0.463000													21	25					0	0	0.000175454	0	0
CSF3R	1441	broad.mit.edu	37	1	36938262	36938262	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:36938262C>T	ENST00000373103.1	-	7	1246	c.699G>A	c.(697-699)cgG>cgA	p.R233R	CSF3R_ENST00000418048.2_Silent_p.R233R|CSF3R_ENST00000373104.1_Silent_p.R233R|CSF3R_ENST00000361632.4_Silent_p.R233R|CSF3R_ENST00000338937.5_Silent_p.R233R|CSF3R_ENST00000331941.5_Silent_p.R233R|CSF3R_ENST00000373106.1_Silent_p.R233R|CSF3R_ENST00000440588.2_Silent_p.R233R	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	233					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTCCATGGTCCGCAGCATGG	0.627000													7	2					0	0	0.000274275	0	0
ADAM29	11086	broad.mit.edu	37	4	175897258	175897258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:175897258G>A	ENST00000359240.3	+	5	1252	c.582G>A	c.(580-582)tgG>tgA	p.W194*	ADAM29_ENST00000404450.4_Nonsense_Mutation_p.W194*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.W194*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.W194*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	194					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGGCTGGTGGATCCATTTTA	0.358000													28	45					0	0	0.000720815	0	0
RETN	56729	broad.mit.edu	37	19	7734321	7734321	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:7734321G>A	ENST00000221515.2	+	2	197	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	RETN_ENST00000381324.2_Missense_Mutation_p.G37S	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	37							hormone activity			ovary(1)	1						GGAGGTCGCCGGCTCCCTAAG	0.612000													10	73					0	0	0.000442599	0	0
ZNF728	388523	broad.mit.edu	37	19	23159633	23159633	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:23159633C>T	ENST00000594710.1	-	4	651	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AAGTTTCTTTCCAGTATGCCT	0.294000													7	25					0	0	8.12818e-05	0	0
DOCK10	55619	broad.mit.edu	37	2	225657702	225657702	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:225657702G>A	ENST00000409592.3	-	47	5395	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	DOCK10_ENST00000258390.7_Missense_Mutation_p.P1767L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1767	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCTCCACTGGGAGTTGTTAG	0.438000													68	72					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141607715	141607715	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:141607715C>T	ENST00000389484.3	-	29	5866	c.4895G>A	c.(4894-4896)cGa>cAa	p.R1632Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1632					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATAAAAGCTCGTTTAATGGT	0.333000										TSP Lung(27;0.18)			34	59					0	0	0.000228196	0	0
OR7C2	26658	broad.mit.edu	37	19	15053093	15053093	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:15053093C>T	ENST00000248072.3	+	1	793	c.793C>T	c.(793-795)Cca>Tca	p.P265S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGCAGTTACACCACCTTCTAG	0.542000													24	42					0	0	0.000878237	0	0
KCNT2	343450	broad.mit.edu	37	1	196311223	196311223	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:196311223G>A	ENST00000367433.5	-	15	1640	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	KCNT2_ENST00000451324.2_Silent_p.F124F|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000294725.8_Silent_p.F513F|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	513	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTGTGCATGGAAAGAGGCAT	0.328000													107	45					0	0	0.000781405	0	0
BICC1	80114	broad.mit.edu	37	10	60559999	60559999	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:60559999G>A	ENST00000373886.3	+	13	1775	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	BICC1_ENST00000263103.1_Missense_Mutation_p.E217K	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	591					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATCACTTGGAGAAAAAGTGCT	0.403000													14	30					0	0	0.000132079	0	0
CREBBP	1387	broad.mit.edu	37	16	3827650	3827650	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:3827650G>A	ENST00000262367.5	-	11	2931	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	CREBBP_ENST00000382070.3_Silent_p.L670L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	708					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCAGGGACAGGGGTCCATCT	0.358000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						49	48					0	0	0.000781405	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18814463	18814463	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:18814463A>T	ENST00000268835.2	+	9	915	c.632A>T	c.(631-633)cAt>cTt	p.H211L	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.H171L|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.H125L|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.H211L	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	211					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GCAGTGATTCATGGAGAGGCG	0.587000													21	36					0	0	0.00047179	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095057	16095057	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:16095057C>T	ENST00000375766.3	+	5	1113	c.473C>T	c.(472-474)cCc>cTc	p.P158L	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P158L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.P158L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	158	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGCCCGGTCCCCTCAGGCCC	0.647000													11	20					0	0	0.000219431	0	0
IRAK3	11213	broad.mit.edu	37	12	66605284	66605284	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:66605284C>T	ENST00000261233.4	+	5	916	c.495C>T	c.(493-495)ttC>ttT	p.F165F	IRAK3_ENST00000457197.2_Silent_p.F104F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	165	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTAGAAATTTCCACAAAGACT	0.353000													19	29					0	0	0.000958276	0	0
CETN1	1068	broad.mit.edu	37	18	580810	580810	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:580810G>A	ENST00000327228.3	+	1	444	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	134	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACGAGCTGGGGGAGAACCTCA	0.537000													23	35					0	0	0.00047179	0	0
G6PC	2538	broad.mit.edu	37	17	41061382	41061382	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41061382G>A	ENST00000253801.2	+	4	588	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	G6PC_ENST00000592383.1_Silent_p.T144T|G6PC_ENST00000585489.1_Intron	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	170			R -> Q (in GSD1A; loss of catalytic activity).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTCTGTCACGAATCTACCTT	0.502000													84	136					0	0	0.000781405	0	0
TF	7018	broad.mit.edu	37	3	133478161	133478161	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:133478161C>T	ENST00000402696.3	+	9	1676	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TF_ENST00000264998.3_Silent_p.I270I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	397	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.I397I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGACTGCATCGCCAAGATCA	0.547000													25	38					0	0	0.00047179	0	0
OR2H1	26716	broad.mit.edu	37	6	29430333	29430333	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:29430333C>T	ENST00000377136.1	+	4	1252	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	OR2H1_ENST00000377132.1_Missense_Mutation_p.P263S|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.P263S|OR2H1_ENST00000442615.1_Missense_Mutation_p.P263S|OR2H1_ENST00000377133.1_Missense_Mutation_p.P263S			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GCCCAAAAATCCGTATGCCCA	0.517000													17	97					0	0	0.000958276	0	0
KIAA1598	57698	broad.mit.edu	37	10	118671344	118671344	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:118671344G>A	ENST00000355371.4	-	14	1813	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.S379L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S439L|KIAA1598_ENST00000260777.10_Missense_Mutation_p.S439L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	439					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGCCTTTCGAAGATTCTGG	0.308000													44	90					0	0	0.000781405	0	0
OR5A2	219981	broad.mit.edu	37	11	59190346	59190346	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59190346G>A	ENST00000302040.4	-	1	103	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACATGAAAAGGAAAATCTTCA	0.453000													38	45					0	0	0.000228196	0	0
CHL1	10752	broad.mit.edu	37	3	407668	407668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:407668C>T	ENST00000256509.2	+	15	2263	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.R525C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	525	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAAGAATCCTCGTATCCCCAA	0.353000													18	20					0	0	0.000958276	0	0
DNMBP	23268	broad.mit.edu	37	10	101716647	101716647	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:101716647G>A	ENST00000342239.3	-	4	675	c.584C>T	c.(583-585)cCa>cTa	p.P195L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P195L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	195	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAACCTTCTGGAAAAATGCC	0.483000													21	47					0	0	0.000295444	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865086	42865086	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:42865086A>G	ENST00000431473.3	+	2	304	c.175A>G	c.(175-177)Aac>Gac	p.N59D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	59					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTCCAGCTAAACCAGAAGGC	0.527000													5	11					0	0	3.59834e-05	0	0
IQUB	154865	broad.mit.edu	37	7	123092935	123092935	+	Silent	SNP	G	G	A	rs141358866		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:123092935G>A	ENST00000466202.1	-	13	2814	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	IQUB_ENST00000324698.6_Silent_p.I746I			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	746										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCTTAGCCAGGATATGTTTGT	0.343000													13	16					0	0	0.000219431	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192189	45192189	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:45192189G>A	ENST00000279027.4	-	12	1514	c.1494_splice	c.e12-1	p.A499_splice	SLC13A3_ENST00000290317.5_Splice_Site_p.A452_splice|SLC13A3_ENST00000396360.1_Splice_Site_p.A417_splice|SLC13A3_ENST00000495082.1_Splice_Site_p.A452_splice|SLC13A3_ENST00000472148.1_Splice_Site_p.A417_splice|SLC13A3_ENST00000435032.1_Splice_Site_p.A84_splice|SLC13A3_ENST00000413164.2_Splice_Site_p.A449_splice	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	499						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAGGCGGATGGCCTGGGCCAG	0.607000													6	11					0	0	0.000157383	0	0
MAST1	22983	broad.mit.edu	37	19	12976868	12976868	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:12976868G>A	ENST00000251472.4	+	17	2020	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	661	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCAGAAGGCCGAGTTCATCCC	0.592000													14	17					0	0	0.000422831	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553534	140553534	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140553534G>A	ENST00000231137.3	+	1	1292	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTAGAGACAGAGATTCCGGG	0.473000													13	28					0	0	0.000422831	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093661	69093661	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:69093661G>A	ENST00000332644.5	-	10	1380	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	407	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATCCAATTGCGATAAGAAGTC	0.398000													28	44					0	0	0.000692331	0	0
OPRK1	4986	broad.mit.edu	37	8	54147561	54147561	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:54147561G>A	ENST00000265572.3	-	3	665	c.368C>T	c.(367-369)tCc>tTc	p.S123F	OPRK1_ENST00000524278.1_Missense_Mutation_p.S34F|OPRK1_ENST00000520287.1_Missense_Mutation_p.S123F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	123					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAAAGGCCAGGAATTCATCAA	0.433000													34	112					0	0	0.000692331	0	0
FAM53C	51307	broad.mit.edu	37	5	137680896	137680896	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:137680896C>T	ENST00000239906.5	+	4	947	c.519C>T	c.(517-519)ctC>ctT	p.L173L	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Silent_p.L173L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	173										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAGGTTCCTCCAAGCTCCCA	0.642000													27	59					0	0	0.000184323	0	0
BARX2	8538	broad.mit.edu	37	11	129306656	129306656	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:129306656C>T	ENST00000281437.4	+	2	294	c.198C>T	c.(196-198)tcC>tcT	p.S66S	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	66										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GCTCCCCTTCCCTGCGGGCAT	0.672000													51	74					0	0	0.000781405	0	0
TET3	200424	broad.mit.edu	37	2	74274397	74274397	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:74274397C>T	ENST00000409262.3	+	1	948	c.948C>T	c.(946-948)ccC>ccT	p.P316P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	316							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCTGGCCCATGCCTCGCC	0.617000													11	17					0	0	0.000151284	0	0
ASXL3	80816	broad.mit.edu	37	18	31324164	31324164	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr18:31324164G>A	ENST00000269197.5	+	12	4352	c.4352G>A	c.(4351-4353)gGa>gAa	p.G1451E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATAATTCTGGAAAACCTCAG	0.478000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	79					0	0	0.000781405	0	0
SPNS3	201305	broad.mit.edu	37	17	4349427	4349427	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:4349427G>C	ENST00000355530.2	+	4	767	c.487G>C	c.(487-489)Gac>Cac	p.D163H	SPNS3_ENST00000333476.2_Missense_Mutation_p.D36H|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	163					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGTCCTGGGCGACCTCTTCGT	0.627000													25	24					0	0	0.000586117	0	0
DCDC1	341019	broad.mit.edu	37	11	31329440	31329440	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:31329440G>A	ENST00000597505.1	-	2	179	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DCDC1_ENST00000452803.1_Silent_p.S60S|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	60					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTTTGCCTGGGATGACATAA	0.373000													33	49					0	0	0.00058488	0	0
DCAF6	55827	broad.mit.edu	37	1	167962515	167962515	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:167962515C>T	ENST00000367840.3	+	7	834	c.740C>T	c.(739-741)tCc>tTc	p.S247F	DCAF6_ENST00000312263.6_Missense_Mutation_p.S247F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S216F|DCAF6_ENST00000367843.3_Missense_Mutation_p.S247F	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	247					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTTATTCCTTCCCATCTTAAT	0.333000													17	70					0	0	0.000229342	0	0
DGKI	9162	broad.mit.edu	37	7	137339507	137339507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:137339507G>A	ENST00000424189.2	-	5	938	c.709C>T	c.(709-711)Cga>Tga	p.R237*	DGKI_ENST00000288490.5_Nonsense_Mutation_p.R237*|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R237*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	237					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTCCTTCTCGAAATGTTGGT	0.318000													21	34					0	0	0.00047179	0	0
SLIT2	9353	broad.mit.edu	37	4	20541135	20541135	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:20541135T>A	ENST00000504154.1	+	19	2156	c.1904T>A	c.(1903-1905)cTt>cAt	p.L635H	SLIT2_ENST00000503823.1_Missense_Mutation_p.L627H|SLIT2_ENST00000273739.5_Missense_Mutation_p.L639H|SLIT2_ENST00000503837.1_Missense_Mutation_p.L631H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	635					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						GTGCGTTTGCTTTCTTTGTAT	0.383000													35	35					0	0	0.000191422	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:56468689G>A	ENST00000288221.6	-	2	602	c.347C>T	c.(346-348)tCa>tTa	p.S116L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000													38	63					0	0	0.000191422	0	0
TLR4	7099	broad.mit.edu	37	9	120475442	120475442	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:120475442C>T	ENST00000355622.6	+	3	1137	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	TLR4_ENST00000394487.4_Missense_Mutation_p.P306S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	346					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGACAGTTTCCCACATTGAA	0.358000													34	52					0	0	0.000191422	0	0
MUC16	94025	broad.mit.edu	37	19	9069570	9069570	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9069570G>A	ENST00000397910.4	-	3	18079	c.17876C>T	c.(17875-17877)tCc>tTc	p.S5959F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5961	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						GGTGAGAAGGGAAGTCACAGG	0.498000													19	21					0	0	0.00074312	0	0
SYTL5	94122	broad.mit.edu	37	X	37893255	37893255	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:37893255G>A	ENST00000357972.5	+	2	659	c.113G>A	c.(112-114)aGa>aAa	p.R38K	SYTL5_ENST00000297875.2_Missense_Mutation_p.R38K|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.R38K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	38	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAGGACAAGAGAATAAGGTAG	0.363000													17	3					0	0	0.000958276	0	0
WFS1	7466	broad.mit.edu	37	4	6304159	6304159	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6304159C>T	ENST00000226760.1	+	8	2807	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	WFS1_ENST00000503569.1_Silent_p.F879F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	879	Poly-Phe.				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGTTCGCCTTCGACTTCTTTT	0.627000													54	87					0	0	0.000781405	0	0
PROX1	5629	broad.mit.edu	37	1	214170203	214170203	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:214170203C>G	ENST00000366958.4	+	2	933	c.325C>G	c.(325-327)Ccc>Gcc	p.P109A	PROX1_ENST00000498508.2_Missense_Mutation_p.P109A|PROX1_ENST00000261454.4_Missense_Mutation_p.P109A|PROX1_ENST00000435016.1_Missense_Mutation_p.P109A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	109					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGCACGGAGCCCAGTTTCCA	0.488000													107	39					0	0	0.000781405	0	0
SALL4	57167	broad.mit.edu	37	20	50407595	50407595	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:50407595G>A	ENST00000217086.4	-	2	1538	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	476					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAAGGACAGGTTTGCTGTC	0.557000													35	41					0	0	0.000692331	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463913	130463913	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:130463913G>A	ENST00000356763.3	-	2	707	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	50	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCTTCACAACGACCAGGCCTT	0.408000													25	54					0	0	0.000409698	0	0
EGFL6	25975	broad.mit.edu	37	X	13624543	13624543	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:13624543G>A	ENST00000361306.1	+	6	823	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R189Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398000													52	13					0	0	0.000781405	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698568	17698568	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:17698568T>C	ENST00000399080.2	-	1	1138	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	372										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAATTTGCATTTTCTAGTAT	0.373000													21	36					0	0	0.000229342	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568215	7568215	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:7568215C>T	ENST00000340209.4	+	2	406	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	RBFOX1_ENST00000422070.4_Missense_Mutation_p.P75S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P32S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P32S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P75S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P52S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P68S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P52S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P68S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P32S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P52S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	32					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGTTTGCTCCCCCGCAGAA	0.587000													34	69					0	0	0.00058488	0	0
FAM13C	220965	broad.mit.edu	37	10	61029749	61029749	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:61029749G>A	ENST00000373867.3	-	8	929	c.464C>T	c.(463-465)tCg>tTg	p.S155L	FAM13C_ENST00000442566.3_Missense_Mutation_p.S259L|FAM13C_ENST00000422313.2_Missense_Mutation_p.S238L|FAM13C_ENST00000277705.6_Missense_Mutation_p.S259L|FAM13C_ENST00000373868.2_Missense_Mutation_p.S238L|FAM13C_ENST00000435852.2_Missense_Mutation_p.S238L|FAM13C_ENST00000468840.2_Missense_Mutation_p.S155L|FAM13C_ENST00000419214.2_Missense_Mutation_p.S238L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	238								p.S238L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCATCGTGGCGACAGCAGTGG	0.542000													18	36					0	0	0.000958276	0	0
HERC1	8925	broad.mit.edu	37	15	64019986	64019986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:64019986G>A	ENST00000443617.2	-	17	3293	c.3206C>T	c.(3205-3207)tCc>tTc	p.S1069F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1069					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAACAGCAGGGAGTTAACAAT	0.463000													29	45					0	0	0.000228196	0	0
UBE2O	63893	broad.mit.edu	37	17	74398146	74398146	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:74398146G>A	ENST00000319380.7	-	5	813	c.750_splice	c.e5+1	p.S250_splice		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	250							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACACTACCGAGTCGCTGAC	0.567000													8	27					0	0	0.000442599	0	0
CELSR2	1952	broad.mit.edu	37	1	109814011	109814011	+	Silent	SNP	G	G	T	rs141656858	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:109814011G>T	ENST00000271332.3	+	27	7741	c.7680G>T	c.(7678-7680)tcG>tcT	p.S2560S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2560					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCCCAGCTCGGGCCTGCAGC	0.647000													7	146					0.000157383	0.00210404	0.000157383	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6087196	6087196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:6087196C>T	ENST00000409021.3	-	4	1234	c.785G>A	c.(784-786)aGa>aAa	p.R262K	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R262K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R97K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R97K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R262K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	262	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGGAGCTCTCTCTTTGGACT	0.627000													10	27					0	0	6.40141e-05	0	0
LRFN2	57497	broad.mit.edu	37	6	40400120	40400120	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:40400120G>A	ENST00000338305.6	-	2	1275	c.733C>T	c.(733-735)Cac>Tac	p.H245Y		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	245	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAATTGCAGTGAAGTGGGTTA	0.607000													16	52					0	0	0.000422831	0	0
VAV3	10451	broad.mit.edu	37	1	108303475	108303475	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:108303475C>T	ENST00000370056.4	-	10	1222	c.948G>A	c.(946-948)ggG>ggA	p.G316G	VAV3_ENST00000527011.1_Silent_p.G316G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.G251G	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	316	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GAGTAAATTTCCCATTATTTG	0.353000													7	19					0	0	0.000157383	0	0
DOCK3	1795	broad.mit.edu	37	3	51101978	51101978	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:51101978G>A	ENST00000266037.9	+	6	438	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	139						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGATCAGGTGCGGGAGGT	0.448000													30	65					0	0	0.000491102	0	0
ZP4	57829	broad.mit.edu	37	1	238049104	238049104	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:238049104G>A	ENST00000366570.4	-	7	1080	c.922C>T	c.(922-924)Cct>Tct	p.P308S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	308	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGGTCTCAGGAAAGGGTGGT	0.502000													18	64					0	0	0.000958276	0	0
AOC3	8639	broad.mit.edu	37	17	41003774	41003774	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:41003774G>A	ENST00000308423.2	+	1	574	c.414G>A	c.(412-414)gtG>gtA	p.V138V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	138					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGCCCAACGTGAGTGAGCTGG	0.682000													8	11					0	0	0.000442599	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552513	1552513	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:1552513C>T	ENST00000381605.4	-	3	668	c.604G>A	c.(604-606)Gac>Aac	p.D202N	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	202	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GACACACTGTCTCCTGCGGGG	0.557000													21	36					0	0	0.000147802	0	0
OR2K2	26248	broad.mit.edu	37	9	114089898	114089898	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:114089898G>A	ENST00000374428.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I	OR2K2_ENST00000302681.1_Silent_p.I272I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GCAACGAGATGATTTTGTCTA	0.408000													17	40					0	0	0.000422831	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618670	77618670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:77618670C>T	ENST00000521891.2	+	2	2795	c.2347C>T	c.(2347-2349)Cga>Tga	p.R783*	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R783*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R783*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R783*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	783						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)			CAGGAACCTCCGAATTCATAT	0.512000										HNSCC(33;0.089)			30	51					0	0	0.000339439	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:148080748G>A	ENST00000361727.3	+	22	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.G220G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1161	Laminin G-like 4.				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)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)			17	33					0	0	0.00074312	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682216	46682216	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:46682216G>A	ENST00000274793.7	-	5	647	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	PLA2G7_ENST00000538237.1_Missense_Mutation_p.H106Y|PLA2G7_ENST00000541026.1_Missense_Mutation_p.H24Y|PLA2G7_ENST00000537365.1_Missense_Mutation_p.H151Y	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	151					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CCAAGACCATGAGAAAAAACA	0.373000													53	145					0	0	0.000781405	0	0
AK7	122481	broad.mit.edu	37	14	96944945	96944945	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:96944945G>A	ENST00000267584.4	+	15	1743	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	567					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAATATCGACGATGAGACTGT	0.478000													20	24					0	0	0.000229342	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061858	13061858	+	Silent	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:13061858G>T	ENST00000014914.5	+	2	1565	c.675G>T	c.(673-675)gtG>gtT	p.V225V	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	225						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCATCTGGGTGGCCTGGATCA	0.582000													6	75					0.000157383	0.00210404	0.000157383	1	0
MUC16	94025	broad.mit.edu	37	19	9050137	9050137	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:9050137G>A	ENST00000397910.4	-	5	31697	c.31494C>T	c.(31492-31494)gtC>gtT	p.V10498V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10500	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						TGGGAGTATAGACACTGGTGG	0.502000													122	134					0	0	0.000781405	0	0
ABCA6	23460	broad.mit.edu	37	17	67080471	67080471	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:67080471C>T	ENST00000284425.2	-	34	4460	c.4286G>A	c.(4285-4287)gGa>gAa	p.G1429E	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1429	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGTGAGTTTCCCAGGAGGCT	0.527000													29	41					0	0	0.000184323	0	0
DNAH5	1767	broad.mit.edu	37	5	13777321	13777321	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:13777321G>A	ENST00000265104.4	-	54	9199	c.9095C>T	c.(9094-9096)tCa>tTa	p.S3032L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3032	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCACCTGATGATAAAACATT	0.358000									Kartagener syndrome				22	28					0	0	0.000229342	0	0
DPYD	1806	broad.mit.edu	37	1	98039412	98039412	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:98039412C>T	ENST00000370192.3	-	11	1343	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	415					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCCAGTTTCATCTTGCTCT	0.438000													37	58					0	0	0.00058488	0	0
ANK2	287	broad.mit.edu	37	4	114276157	114276157	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:114276157C>T	ENST00000357077.4	+	38	6436	c.6383C>T	c.(6382-6384)cCa>cTa	p.P2128L	ANK2_ENST00000264366.6_Missense_Mutation_p.P2095L|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2095					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)		CAGATCAGCCCAGATAGGAAA	0.473000													17	22					0	0	0.000958276	0	0
KIRREL3	84623	broad.mit.edu	37	11	126396485	126396485	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:126396485G>A	ENST00000525144.2	-	3	480	c.231C>T	c.(229-231)ttC>ttT	p.F77F	KIRREL3_ENST00000525704.2_Silent_p.F77F|KIRREL3_ENST00000529097.2_Silent_p.F77F	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	77	Ig-like C2-type 1.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCACAGAACGAAGCCATCGT	0.612000													10	4					0	0	0.000673444	0	0
MROH2B	133558	broad.mit.edu	37	5	41054920	41054920	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:41054920G>A	ENST00000399564.4	-	11	1506	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTATTGAAATGATGTGATCCC	0.373000													28	57					0	0	0.000227799	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255090	140255090	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:140255090C>T	ENST00000398631.2	+	1	33	c.33C>T	c.(31-33)tcC>tcT	p.S11S	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGGGATCCCAGCGTCTGC	0.567000													9	18					0	0	0.000673444	0	0
SLC6A3	6531	broad.mit.edu	37	5	1421994	1421994	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:1421994C>T	ENST00000270349.9	-	5	916	c.789G>A	c.(787-789)ggG>ggA	p.G263G	SLC6A3_ENST00000453492.2_Silent_p.G263G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	263					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCTCACCTTCCCTGAGGTCT	0.637000													24	47					0	0	0.000227799	0	0
FIP1L1	81608	broad.mit.edu	37	4	54294256	54294256	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:54294256C>T	ENST00000337488.6	+	13	1274	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	FIP1L1_ENST00000306932.6_Silent_p.F286F|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000507922.1_Silent_p.F345F|FIP1L1_ENST00000358575.5_Silent_p.F345F	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	360	Pro-rich.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCGTTTTTCCCTCCAGGAG	0.463000			T	PDGFRA	idiopathic hypereosinophilic syndrome								14	18					0	0	0.000219431	0	0
SCN11A	11280	broad.mit.edu	37	3	38924806	38924806	+	Missense_Mutation	SNP	C	C	T	rs147061364	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:38924806C>T	ENST00000302328.3	-	18	3335	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1046Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1046					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCAGGTTTTCCGCAGGTTCCA	0.453000													17	30					0	0	0.000422831	0	0
SYTL1	84958	broad.mit.edu	37	1	27676173	27676173	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:27676173G>A	ENST00000543823.1	+	7	1126	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.G210R			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	222					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAGAATGGGGAGGAGGC	0.711000													4	5					0	0	0.000602214	0	0
MED15	51586	broad.mit.edu	37	22	20929492	20929492	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr22:20929492C>T	ENST00000263205.7	+	9	1314	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	415	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAAGCTCCATCCCTTTGGGCA	0.632000													16	19					0	0	0.000566183	0	0
COL24A1	255631	broad.mit.edu	37	1	86210432	86210432	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:86210432C>T	ENST00000370571.2	-	57	4955	c.4589G>A	c.(4588-4590)aGc>aAc	p.S1530N	COL24A1_ENST00000436319.1_Missense_Mutation_p.S1509N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1530	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTCTTGATGCTGTGCAATAA	0.393000													25	40					0	0	0.000586117	0	0
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000393051.1_Missense_Mutation_p.S202L|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCACTGCTTCGCCACCTACA	0.532000													40	56					0	0	0.000437636	0	0
OR4N5	390437	broad.mit.edu	37	14	20612005	20612005	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:20612005C>T	ENST00000333629.1	+	1	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCTACCTTATCATCCTCCCTG	0.453000													71	194					0	0	0.000781405	0	0
SPEF2	79925	broad.mit.edu	37	5	35740050	35740050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:35740050G>A	ENST00000440995.2	+	22	3078	c.3078G>A	c.(3076-3078)tgG>tgA	p.W1026*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W1031*|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1031					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTTACTGGGAACTAATAG	0.338000													16	32					0	0	0.000422831	0	0
GIF	2694	broad.mit.edu	37	11	59610595	59610595	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:59610595G>A	ENST00000541311.1	-	3	435	c.201C>T	c.(199-201)ctC>ctT	p.L67L	GIF_ENST00000257248.2_Silent_p.L92L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	92					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGGTGAGGCCGAGCTGCCCAA	0.527000													14	28					0	0	0.000422831	0	0
CSMD1	64478	broad.mit.edu	37	8	3141781	3141781	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:3141781C>T	ENST00000520002.1	-	27	4596	c.4041G>A	c.(4039-4041)aaG>aaA	p.K1347K	CSMD1_ENST00000400186.3_Silent_p.K1347K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.K1347K|CSMD1_ENST00000602557.1_Silent_p.K1347K|CSMD1_ENST00000542608.1_Silent_p.K1346K|CSMD1_ENST00000539096.1_Silent_p.K1346K|CSMD1_ENST00000537824.1_Silent_p.K1346K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1347	CUB 8.					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)		CACTCCACTCCTTCAGCAGGA	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	20					0	0	0.00074312	0	0
THAP4	51078	broad.mit.edu	37	2	242573101	242573101	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:242573101C>T	ENST00000407315.1	-	2	902	c.471G>A	c.(469-471)gcG>gcA	p.A157A		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	157							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCTCCTGGGCCGCCCTGGGTG	0.642000													15	27					0	0	0.000422831	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198935	91198935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:91198935C>A	ENST00000341233.4	-	6	754	c.364G>T	c.(364-366)Gga>Tga	p.G122*	SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.G152*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	122						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTGCAAATCCAAGACCTGAG	0.418000													5	43					8.12818e-05	0.00109034	8.12818e-05	1	0
TRERF1	55809	broad.mit.edu	37	6	42211038	42211038	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:42211038C>T	ENST00000541110.1	-	15	3435	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	TRERF1_ENST00000372917.4_Missense_Mutation_p.R853Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.R853Q|TRERF1_ENST00000340840.2_Missense_Mutation_p.R853Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.R936Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	936	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCCCCAGCCGCATGATCTT	0.557000													32	171					0	0	0.00058488	0	0
BICD2	23299	broad.mit.edu	37	9	95477665	95477665	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:95477665G>A	ENST00000356884.6	-	7	2406	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	BICD2_ENST00000375512.3_Missense_Mutation_p.S780L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	780	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCAGCAGCGAGTTCAGCGT	0.617000													13	15					0	0	0.000219431	0	0
CITED2	10370	broad.mit.edu	37	6	139695073	139695073	+	Silent	SNP	G	G	A	rs148956290		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr6:139695073G>A	ENST00000367651.2	-	2	224	c.9C>T	c.(7-9)gaC>gaT	p.D3D	CITED2_ENST00000537332.1_Silent_p.D3D|CITED2_ENST00000536159.1_Silent_p.D3D	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	3					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CCATCATATGGTCTGCCATTT	0.637000													5	6					0	0	0.000602214	0	0
MATN4	8785	broad.mit.edu	37	20	43927082	43927082	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:43927082C>T	ENST00000537548.1	-	8	1398	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	MATN4_ENST00000372751.4_Missense_Mutation_p.G236E|MATN4_ENST00000360607.5_Missense_Mutation_p.G344E|MATN4_ENST00000372756.1_Missense_Mutation_p.G385E|MATN4_ENST00000342716.4_Missense_Mutation_p.G385E|MATN4_ENST00000372754.1_Missense_Mutation_p.G426E|MATN4_ENST00000353917.5_Missense_Mutation_p.G303E|MATN4_ENST00000372753.1_Missense_Mutation_p.G236E			O95460	MATN4_HUMAN	matrilin 4	426						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCACCAGCCCCACCCGCGT	0.637000													15	20					0	0	0.000308642	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350614	135350614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:135350614C>T	ENST00000463117.2	+	9	1287	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	CYP2E1_ENST00000252945.3_Missense_Mutation_p.P339S|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	339					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AAGCCGAATCCCTGCCATCAA	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	21					0	0	0.000175454	0	0
MYLK3	91807	broad.mit.edu	37	16	46766146	46766146	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:46766146C>T	ENST00000394809.4	-	4	1551	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	MYLK3_ENST00000536476.1_Missense_Mutation_p.G138D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	479					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCCTCGGCGCCTGGGGGCAT	0.657000													10	2					0	0	0.000673444	0	0
NF1	4763	broad.mit.edu	37	17	29576111	29576111	+	Nonsense_Mutation	SNP	C	C	T	rs137854560		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:29576111C>T	ENST00000358273.4	+	30	4467	c.4084C>T	c.(4084-4086)Cga>Tga	p.R1362*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1362*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1362	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1362*(5)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCTCAACTTCGAAGTGTGTG	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			44	77					0	0	0.000781405	0	0
IL10	3586	broad.mit.edu	37	1	206944372	206944372	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:206944372C>T	ENST00000423557.1	-	3	316	c.258G>A	c.(256-258)atG>atA	p.M86I	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	86					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAACTGGATCATCTCAGACA	0.572000													22	117					0	0	0.00047179	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813667	100813667	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:100813667C>T	ENST00000323346.5	+	12	1813	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	SLC17A8_ENST00000392989.3_Silent_p.V450V|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	500					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTATGGGGTCTTTGCTTCTG	0.463000													28	56					0	0	0.000279167	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701378	56701378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:56701378C>T	ENST00000586855.2	-	5	1619	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E436K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCCTCTCCCCGGTGTGG	0.562000													16	25					0	0	0.00074312	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060258	35060258	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr20:35060258C>T	ENST00000373913.3	+	3	618	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DLGAP4_ENST00000373907.2_Silent_p.F46F|DLGAP4_ENST00000401952.2_Silent_p.F46F|DLGAP4_ENST00000339266.5_Silent_p.F46F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	46					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGCCCGCTTCCCCGGGCAGA	0.677000													13	15					0	0	0.00010058	0	0
CACNA1E	777	broad.mit.edu	37	1	181767666	181767666	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:181767666C>T	ENST00000526775.1	+	46	6617	c.6452C>T	c.(6451-6453)tCt>tTt	p.S2151F	CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2102F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2164F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2194F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2170F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1777F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2213F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2213					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTTCCAACTCTCCGCACCCC	0.622000													45	19					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152515633	152515633	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:152515633C>A	ENST00000427231.2	-	47	6223	c.6021G>T	c.(6019-6021)atG>atT	p.M2007I	NEB_ENST00000603639.1_Missense_Mutation_p.M2007I|NEB_ENST00000604864.1_Missense_Mutation_p.M2007I|NEB_ENST00000172853.10_Missense_Mutation_p.M2007I|NEB_ENST00000397345.3_Missense_Mutation_p.M2007I|NEB_ENST00000409198.1_Missense_Mutation_p.M2007I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2007					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATATCAGGCATGATGTGGA	0.378000													71	140					9.11151e-29	1.23694e-27	0.000781405	1	0
ALG2	85365	broad.mit.edu	37	9	101980476	101980476	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:101980476G>A	ENST00000476832.1	-	2	1052	c.991C>T	c.(991-993)Cct>Tct	p.P331S	ALG2_ENST00000319033.6_Missense_Mutation_p.P238S	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	331					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GCTTCCAGAGGGACAATGCCA	0.507000													14	22					0	0	0.000566183	0	0
DNAH9	1770	broad.mit.edu	37	17	11659888	11659888	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:11659888C>T	ENST00000262442.3	+	34	6810	c.6742C>T	c.(6742-6744)Ctg>Ttg	p.L2248L	DNAH9_ENST00000454412.2_Silent_p.L2248L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2248	AAA 2 (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)		TCTCCAGGTGCTGACATTGGC	0.542000													60	64					0	0	0.000781405	0	0
COL14A1	7373	broad.mit.edu	37	8	121238909	121238909	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:121238909G>A	ENST00000297848.3	+	16	2178	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T541T|COL14A1_ENST00000309791.4_Silent_p.T636T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		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)			ATGAGGTGACGACAGACAGTT	0.478000													19	33					0	0	0.000958276	0	0
RSAD2	91543	broad.mit.edu	37	2	7030343	7030343	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:7030343G>A	ENST00000382040.3	+	4	911	c.775G>A	c.(775-777)Gga>Aga	p.G259R	RSAD2_ENST00000541728.1_Missense_Mutation_p.G152R	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	259					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGAGAATTGTGGAGAAGATGC	0.443000													21	44					0	0	0.000229342	0	0
TRPM4	54795	broad.mit.edu	37	19	49685891	49685891	+	Silent	SNP	C	C	T	rs145772095		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:49685891C>T	ENST00000252826.5	+	11	1446	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Silent_p.F440F|TRPM4_ENST00000355712.5_Silent_p.F86F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	440					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCTGAGTTCGTGCGCTTGC	0.607000													8	21					0	0	0.000673444	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	G	A	rs141164035		TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr8:24256521G>A	ENST00000538205.1	+	10	1207	c.660G>A	c.(658-660)ggG>ggA	p.G220G	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G220G|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.G299G	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000													12	26					0	0	0.00010058	0	0
TBC1D29	26083	broad.mit.edu	37	17	28889909	28889909	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr17:28889909G>A	ENST00000580161.1	+	5	2698	c.201G>A	c.(199-201)aaG>aaA	p.K67K	TBC1D29_ENST00000584297.1_Intron|TBC1D29_ENST00000579181.1_Silent_p.K67K			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	67						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				AAACTAACAAGGAAACATGGG	0.493000													11	30					0	0	0.000219431	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870823	15870823	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr21:15870823C>T	ENST00000285670.2	-	8	1237	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	SAMSN1_ENST00000400564.1_Missense_Mutation_p.E119K|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.E287K	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	287					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTGGGTTTTCAATATTTAAT	0.363000													19	37					0	0	0.000958276	0	0
NOL8	55035	broad.mit.edu	37	9	95077832	95077832	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:95077832G>A	ENST00000545558.1	-	7	1567	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	NOL8_ENST00000442668.2_Missense_Mutation_p.R359C|NOL8_ENST00000535387.1_Missense_Mutation_p.R359C|NOL8_ENST00000542053.1_Missense_Mutation_p.R291C|NOL8_ENST00000358855.4_Missense_Mutation_p.R291C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	359					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CAAGAGACACGATTTTTGATA	0.333000													13	26					0	0	0.000308642	0	0
SLIT3	6586	broad.mit.edu	37	5	168179971	168179971	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:168179971G>A	ENST00000519560.1	-	18	2381	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	SLIT3_ENST00000404867.3_Silent_p.S654S|SLIT3_ENST00000332966.8_Silent_p.S654S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	654					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGACAGGGAGACAAGCG	0.597000													16	8					0	0	0.000422831	0	0
SERBP1	26135	broad.mit.edu	37	1	67895945	67895945	+	Silent	SNP	G	G	C			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:67895945G>C	ENST00000370994.4	-	1	153	c.39C>G	c.(37-39)gtC>gtG	p.V13V	SERBP1_ENST00000370995.2_Silent_p.V13V|SERBP1_ENST00000370990.5_Silent_p.V13V|SERBP1_ENST00000361219.6_Silent_p.V13V	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	13					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATCGGTTGGTGACCACGCAGC	0.627000													20	54					0	0	0.000375601	0	0
RRN3	54700	broad.mit.edu	37	16	15180278	15180278	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:15180278G>A	ENST00000198767.6	-	4	369	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	RRN3_ENST00000563559.1_Missense_Mutation_p.R96C|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.R63C|RRN3_ENST00000564131.1_Missense_Mutation_p.R96C	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	96					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATAGAAGAACGGAATTCTAGC	0.313000													61	169					0	0	0.000781405	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533279	47533279	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:47533279G>A	ENST00000334194.3	+	1	120	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	39						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGAGATGGATGATCAGAGCCC	0.522000													23	39					0	0	0.000720815	0	0
PRSS38	339501	broad.mit.edu	37	1	228033739	228033739	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:228033739A>G	ENST00000366757.3	+	5	835	c.811A>G	c.(811-813)Aac>Gac	p.N271D		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	271	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCTGCTCCAACCCTCTGTA	0.542000													41	16					0	0	0.000319135	0	0
AASDH	132949	broad.mit.edu	37	4	57209798	57209798	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:57209798G>A	ENST00000205214.6	-	13	2885	c.2705C>T	c.(2704-2706)cCg>cTg	p.P902L	AASDH_ENST00000451613.1_Intron|AASDH_ENST00000434343.2_Missense_Mutation_p.P417L|AASDH_ENST00000513376.1_Missense_Mutation_p.P802L|AASDH_ENST00000602986.1_Silent_p.S694S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	902					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCAAACACGGAGAGGAAAA	0.333000													14	23					0	0	0.000219431	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439931	190439931	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr2:190439931C>T	ENST00000261024.2	-	3	653	c.227G>A	c.(226-228)gGa>gAa	p.G76E	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	76					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GATGATGGCTCCCAGGACCAG	0.493000													61	85					0	0	0.000781405	0	0
ASTN2	23245	broad.mit.edu	37	9	119858420	119858420	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:119858420G>A	ENST00000313400.4	-	5	1279	c.1179C>T	c.(1177-1179)agC>agT	p.S393S	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.S342S|ASTN2_ENST00000373996.3_Silent_p.S393S			O75129	ASTN2_HUMAN	astrotactin 2	393						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						CTCTCCCAAAGCTGATTCCTC	0.542000													14	18					0	0	0.000219431	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106786820	106786820	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:106786820G>A	ENST00000265717.4	+	6	914	c.655G>A	c.(655-657)Ggg>Agg	p.G219R		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	219					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGATAATCGTGGGAGTTTCGG	0.423000													20	45					0	0	0.000229342	0	0
ESR2	2100	broad.mit.edu	37	14	64735629	64735629	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:64735629C>T	ENST00000557772.1	-	3	535	c.535_splice	c.e3-1	p.G179_splice	ESR2_ENST00000554572.1_Splice_Site_p.G179_splice|ESR2_ENST00000553796.1_Splice_Site_p.G179_splice|ESR2_ENST00000341099.4_Splice_Site_p.G179_splice|ESR2_ENST00000267525.6_Splice_Site_p.G179_splice|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Splice_Site_p.G179_splice|ESR2_ENST00000555278.1_Splice_Site_p.G179_splice|ESR2_ENST00000542956.1_Splice_Site_p.G179_splice|ESR2_ENST00000358599.5_Splice_Site_p.G179_splice|ESR2_ENST00000353772.3_Splice_Site_p.G179_splice	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	179					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATCATTATGTCCTATAGCAGA	0.418000													28	83					0	0	0.000227799	0	0
TGM4	7047	broad.mit.edu	37	3	44943190	44943190	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:44943190G>A	ENST00000296125.4	+	7	900	c.832_splice	c.e7+1	p.V278_splice		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	278					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCTGACTACAGGTAAGTGGCA	0.597000													9	29					0	0	0.000673444	0	0
KPRP	448834	broad.mit.edu	37	1	152732378	152732378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr1:152732378C>T	ENST00000368773.1	+	2	372	c.314C>T	c.(313-315)tCc>tTc	p.S105F	KPRP_ENST00000606109.1_Missense_Mutation_p.S105F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	105	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCAAACTTCCTCTGTTCAA	0.532000													77	284					0	0	0.000781405	0	0
VWF	7450	broad.mit.edu	37	12	6091093	6091093	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:6091093G>A	ENST00000261405.5	-	42	7400	c.7146C>T	c.(7144-7146)acC>acT	p.T2382T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2382					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)	TCTTCCGAAGGGTGGGCAAAC	0.602000													31	33					0	0	0.000339439	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395281	49395281	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49395281C>T	ENST00000374201.3	-	17	2522	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	FRMPD2_ENST00000407470.4_Missense_Mutation_p.M708I|FRMPD2_ENST00000305531.3_Missense_Mutation_p.M715I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	740					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTCCCAGGTCATTGGCTTCT	0.592000													11	16					0	0	0.00010058	0	0
CHAT	1103	broad.mit.edu	37	10	50827835	50827835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:50827835G>A	ENST00000395562.2	+	4	675	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	CHAT_ENST00000351556.3_Missense_Mutation_p.R33Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R33Q|CHAT_ENST00000337653.2_Missense_Mutation_p.R151Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R33Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R33Q|CHAT_ENST00000460699.1_3'UTR	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	151					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGTGCATGCGACACTTGGTG	0.617000													16	22					0	0	0.000422831	0	0
XYLT1	64131	broad.mit.edu	37	16	17211628	17211628	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr16:17211628G>T	ENST00000261381.6	-	11	2516	c.2432C>A	c.(2431-2433)cCt>cAt	p.P811H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	811					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGTTCAAAGGGGGCTTGTA	0.552000													42	29					1.0096e-33	1.37295e-32	0.000781405	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43824181	43824181	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:43824181C>T	ENST00000389420.3	-	23	3354	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1119K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E273K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1119	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGACTAGCTTCATGGCATTCT	0.388000													20	25					0	0	0.000175454	0	0
NRG3	10718	broad.mit.edu	37	10	84738862	84738862	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:84738862G>A	ENST00000372142.2	+	9	1180	c.906G>A	c.(904-906)acG>acA	p.T302T	NRG3_ENST00000545131.1_Silent_p.T173T|NRG3_ENST00000372141.2_Silent_p.T523T|NRG3_ENST00000556918.1_Silent_p.T353T|NRG3_ENST00000404576.2_Silent_p.T327T|NRG3_ENST00000404547.1_Silent_p.T523T|NRG3_ENST00000537893.1_Silent_p.T173T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	523	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAGGATACGATACCTTGCC	0.468000													19	25					0	0	0.000295444	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146202	10146202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:10146202C>T	ENST00000450660.2	-	2	473	c.257G>A	c.(256-258)gGa>gAa	p.G86E	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.G86E	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		CCTGACCAGTCCTTTGTTGTT	0.537000													17	35					0	0	0.000958276	0	0
OR6C75	390323	broad.mit.edu	37	12	55759590	55759590	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr12:55759590G>A	ENST00000343399.3	+	1	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGTCAAAGGAAAAAAGCCT	0.398000													25	41					0	0	0.000375601	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr5:161113261G>A	ENST00000523217.1	+	2	306	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.E22K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)			37	46					0	0	0.000814825	0	0
CNTN5	53942	broad.mit.edu	37	11	99715598	99715598	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:99715598G>A	ENST00000524871.1	+	5	582	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	CNTN5_ENST00000528682.1_Missense_Mutation_p.G98R|CNTN5_ENST00000279463.3_Missense_Mutation_p.G98R|CNTN5_ENST00000527185.1_Missense_Mutation_p.G98R|CNTN5_ENST00000418526.2_Missense_Mutation_p.G24R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	98					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTGGACTATGGGCCAGTTTT	0.333000													52	69					0	0	0.000781405	0	0
OR51B4	79339	broad.mit.edu	37	11	5322697	5322697	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr11:5322697G>A	ENST00000380224.1	-	1	529	c.480C>T	c.(478-480)ctC>ctT	p.L160L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGCAGTAGAGTGAAAGAA	0.438000													35	48					0	0	0.00058488	0	0
RBPJ	3516	broad.mit.edu	37	4	26417194	26417194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:26417194C>T	ENST00000342320.4	+	4	426	c.250C>T	c.(250-252)Caa>Taa	p.Q84*	RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q63*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q98*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q85*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.Q98*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q83*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	98					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACAAGAGTCTCAACCGTGTGC	0.418000													65	106					0	0	0.000781405	0	0
YIPF7	285525	broad.mit.edu	37	4	44624578	44624578	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr4:44624578G>A	ENST00000332990.5	-	6	712	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	232						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGGATGACATGATTCCAAAGA	0.458000													16	33					0	0	0.00074312	0	0
MAGI1	9223	broad.mit.edu	37	3	65364976	65364976	+	Silent	SNP	G	G	A			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr3:65364976G>A	ENST00000330909.8	-	18	3038	c.3039C>T	c.(3037-3039)atC>atT	p.I1013I	MAGI1_ENST00000483466.1_Silent_p.I1013I|MAGI1_ENST00000497477.2_Silent_p.I985I|MAGI1_ENST00000402939.2_Silent_p.I985I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1013	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCGAGGACACGATGACGAAGC	0.642000													4	5					0	0	0.00024832	0	0
MATK	4145	broad.mit.edu	37	19	3779420	3779420	+	Silent	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:3779420C>T	ENST00000310132.6	-	11	1355	c.957G>A	c.(955-957)cgG>cgA	p.R319R	MATK_ENST00000585778.1_Silent_p.R319R|MATK_ENST00000395040.2_Silent_p.R278R|MATK_ENST00000395045.2_Silent_p.R320R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	319	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCGACCCCGGGTCCGCA	0.672000													11	17					0	0	0.000673444	0	0
MEF2A	4205	broad.mit.edu	37	15	100230539	100230539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:100230539C>T	ENST00000354410.5	+	8	1399	c.770C>T	c.(769-771)cCt>cTt	p.P257L	MEF2A_ENST00000557785.1_Missense_Mutation_p.P255L|MEF2A_ENST00000558812.1_Missense_Mutation_p.P187L|MEF2A_ENST00000338042.6_Missense_Mutation_p.P255L|MEF2A_ENST00000453228.2_Missense_Mutation_p.P255L|MEF2A_ENST00000557942.1_Missense_Mutation_p.P255L|MEF2A_ENST00000449277.2_Missense_Mutation_p.P187L	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	257					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGTCTCCCCCTCCACCAGGT	0.478000													12	79					0	0	0.00010058	0	0
OR2A42	402317	broad.mit.edu	37	7	143929763	143929763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr7:143929763delC	ENST00000391496.1	-	1	173	c.174delG	c.(172-174)atfs	p.M58fs	ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA	NM_001001802.2	NP_001001802.2			olfactory receptor, family 2, subfamily A, member 42											breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					GGAAGAAGTACATGGGGGTGT	0.592													4	2	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													3	3	---	---	---	---					
FRMPD2	143162	broad.mit.edu	37	10	49379224	49379224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr10:49379224delT	ENST00000374201.3	-	26	3553	c.3251delA	c.(3250-3252)agfs	p.K1084fs	FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K1059fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.K36fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K1052fs|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1084	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTGGCATTCTTTTTTAGTTT	0.398													5	1	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105444534	105444534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr14:105444534delC	ENST00000333244.5	-	1	160	c.41delG	c.(40-42)gafs	p.G14fs		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	14						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCGGGGGTTCCGGGCCAGGT	0.801													2	4	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													7	535	---	---	---	---					
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Translation_Start_Site	INS	-	-	G			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195					NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2							nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762													4	7	---	---	---	---					
PPP2R3B	28227	broad.mit.edu	37	X	308374	308374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZP-06A-11D-A197-08	TCGA-FS-A1ZP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d312fc-809d-428b-98e3-a29d211db35c	46ecbb48-9320-47ec-8bd8-4657e1885627	g.chrX:308374delC	ENST00000390665.3	-	3	583	c.565delG	c.(565-567)agfs	p.E189fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	189					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCGTGCGCTCCCCGCCGGCG	0.711													2	4	---	---	---	---