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
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97887907C>T	ENST00000356526.2	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000													14	80					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790141	6790141	+	Silent	SNP	C	C	T	rs150134059		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6790141C>T	ENST00000338569.2	-	1	145	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTCAGAATCCCCACCAAGA	0.463000													10	47					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752204	7752204	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7752204C>T	ENST00000254846.5	+	11	2987	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S	KDM6B_ENST00000448097.2_Silent_p.S866S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	866	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTCTGCTTCCTCGTCATCTC	0.721000													11	46					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880600	142880600	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142880600C>T	ENST00000446620.1	+	1	89	c.89C>T	c.(88-90)tCg>tTg	p.S30L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGTGAATTGTCGCCATTTCTC	0.418000													7	44					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373727	118373727	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:118373727C>T	ENST00000534358.1	+	27	7143	c.7120C>T	c.(7120-7122)Cat>Tat	p.H2374Y	KMT2A_ENST00000354520.4_Missense_Mutation_p.H2333Y|KMT2A_ENST00000389506.5_Missense_Mutation_p.H2371Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCACACCTCCATTTGAGAGG	0.448000													10	46					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990527	63990527	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:63990527T>A	ENST00000370657.4	-	4	962	c.929A>T	c.(928-930)gAt>gTt	p.D310V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	310					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATCCCTGAATCACAAAATCC	0.418000													15	42					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479387	149479387	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149479387G>A	ENST00000378016.2	+	0	1900							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGACTCAGGTAGCCTCTG	0.607000													4	13					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276033	186276033	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:186276033G>A	ENST00000445192.2	+	7	1227	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	PRG4_ENST00000367484.3_Silent_p.K353K|PRG4_ENST00000367486.3_Silent_p.K351K|PRG4_ENST00000367483.4_Silent_p.K353K|PRG4_ENST00000367485.4_Silent_p.K301K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	394	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.642000													17	83					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079506	57079506	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57079506G>A	ENST00000316981.3	-	5	1278	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PLAG1_ENST00000423799.2_Missense_Mutation_p.L185F|PLAG1_ENST00000429357.2_Missense_Mutation_p.L267F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	267	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATCACCGGAAGGAGCTCGTCT	0.438000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								31	138					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5253961	5253961	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5253961C>T	ENST00000292901.3	-	3	432	c.383G>A	c.(382-384)gGa>gAa	p.G128E				P02042	HBD_HUMAN	hemoglobin, delta	0					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCTTTTCCCATGTACTC	0.368000													3	10					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109021	24109021	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:24109021G>A	ENST00000250383.6	+	4	813	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.G113S	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	91					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCACTGTGGGGGCGTCGACTT	0.632000													10	61					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281004	152281004	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152281004C>T	ENST00000368799.1	-	3	6393	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2120	Ser-rich.				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)			TGTGCCTGATCATAATGGGAT	0.572000									Ichthyosis				50	309					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354053	57354053	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57354053C>T	ENST00000314922.3	-	2	658	c.582G>A	c.(580-582)aaG>aaA	p.K194K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.K194K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	194					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGGGGCTTCTCTTTAAGCCTC	0.527000													18	104					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75602798	75602798	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:75602798G>A	ENST00000294638.5	+	4	783	c.119G>A	c.(118-120)gGa>gAa	p.G40E	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.G30E	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCCCCGAGGGAGCGGGGGAC	0.726000													11	58					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572062	186572062	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:186572062G>A	ENST00000412955.2	+	3	445	c.304G>A	c.(304-306)Gga>Aga	p.G102R	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G102R|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G102R			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	102	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGGCAGGAAAGGAGAACCTGG	0.517000													33	90					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468045	50468045	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:50468045C>T	ENST00000331340.3	+	8	1435	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.S284L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S340L|IKZF1_ENST00000359197.5_Missense_Mutation_p.S385L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S385L|IKZF1_ENST00000343574.5_Missense_Mutation_p.S340L|IKZF1_ENST00000346667.4_Missense_Mutation_p.S197L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S340L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	427					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACGGGCTGTCGCTCAAGGAG	0.672000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	43					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995261	140995261	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:140995261C>T	ENST00000285879.4	+	4	2357	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	691							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCTGTCTCCTCTCCAAAT	0.567000										HNSCC(15;0.026)			21	29					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109328001	109328001	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:109328001C>T	ENST00000299134.5	-	9	821	c.822G>A	c.(820-822)caG>caA	p.Q274Q		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TGGAAGAGTTCTGTGGTGAGT	0.488000													4	12					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661698	4661698	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4661698C>T	ENST00000357605.2	+	1	754	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTCTTCATTGGCTTCT	0.498000													13	62					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:5154998C>T	ENST00000252321.3	+	1	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGGGGATCCTTCTGCAAG	0.642000													5	33					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855617	100855617	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100855617C>T	ENST00000223127.3	-	10	1442	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	348					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGAGCTGCGGCCAGGAGT	0.662000													18	140					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029793	103029793	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103029793T>C	ENST00000306312.3	-	13	1651	c.1390A>G	c.(1390-1392)Acc>Gcc	p.T464A	SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000393735.2_Missense_Mutation_p.T464A|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T464A|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T427A|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.T464A	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	464					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTTTGCTGGTTCTCCAGAAA	0.413000													16	111					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300834	158300834	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158300834G>A	ENST00000368168.3	-	2	187	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	27					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AACATGAAAGGAGGTCGGCCC	0.463000													31	212					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262886	1262886	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:1262886G>A	ENST00000447027.1	+	31	4843	c.4785G>A	c.(4783-4785)agG>agA	p.R1595R	MUC5B_ENST00000529681.1_Silent_p.R1592R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1592	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACTACAGGATCCGGGTCC	0.637000													5	19					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460488	61460488	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:61460488G>A	ENST00000398019.2	+	4	638	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SERPINB7_ENST00000540675.1_Missense_Mutation_p.E88K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.E105K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.E105K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	105					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCTTTTTGCTGAAAAAGTGTA	0.373000													11	43					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443363	78443363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:78443363G>A	ENST00000278550.7	-	21	3598	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTGGGTACCTGAATTTCCGGC	0.517000													7	47					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227076736	227076736	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:227076736C>T	ENST00000366782.1	+	8	1372	c.872C>T	c.(871-873)gCc>gTc	p.A291V	PSEN2_ENST00000340188.4_Missense_Mutation_p.A258V|PSEN2_ENST00000366783.3_Missense_Mutation_p.A258V|PSEN2_ENST00000391872.2_Missense_Mutation_p.A291V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A114V|PSEN2_ENST00000422240.2_Missense_Mutation_p.A258V			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	258					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ATCCTGGGCGCCATCTCTGTG	0.622000													7	28					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199573	178199573	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:178199573C>T	ENST00000503486.2	-	0	962					NR_024035.1																						ACCCTCTCTTCCCCGTACTTG	0.582000													5	35					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	64004951	64004951	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:64004951C>T	ENST00000370658.5	-	2	64		c.e2-1		LGSN_ENST00000370657.4_Splice_Site	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain						glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTGTTGAGTCCTGTTGATAAT	0.323000													4	33					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672051	99672051	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:99672051G>A	ENST00000336292.6	+	5	3603	c.3483G>A	c.(3481-3483)gcG>gcA	p.A1161A	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1162	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGCAGCGAGCCCGACCG	0.607000													20	49					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184190176	184190176	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:184190176C>T	ENST00000403733.3	+	15	2459	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000448232.2_Missense_Mutation_p.R754C|WWC2_ENST00000504005.1_Missense_Mutation_p.R436C|WWC2_ENST00000513834.1_Missense_Mutation_p.R705C|WWC2_ENST00000378925.3_Missense_Mutation_p.R656C	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	754	C2.							p.R754S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGTCTGTTTCGCACAAAAGT	0.398000													19	183					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359019	10359019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10359019G>A	ENST00000255381.2	-	19	2196	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	696	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						CACCTCAGCTGATGCAGGACA	0.498000													7	48					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217744	53217744	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53217744G>A	ENST00000330553.5	-	6	1107	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	358	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCGTTCTTGGTGTCCCGCAG	0.607000													21	55					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282876	39282876	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:39282876C>T	ENST00000373229.5	-	6	845	c.832G>A	c.(832-834)Gct>Act	p.A278T	KCNK16_ENST00000507712.1_Missense_Mutation_p.A166T|KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.A231T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	278						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGCCTGGAGCCGCCTTGGCT	0.577000													15	127					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643179	111643179	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:111643179C>T	ENST00000261486.5	-	2	384	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CGGAACCTTTCGTTGACTTCT	0.383000													9	25					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490864	100490864	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100490864G>A	ENST00000302913.4	-	2	1128	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ACHE_ENST00000412389.1_Silent_p.F330F|ACHE_ENST00000241069.5_Silent_p.F330F|ACHE_ENST00000428317.1_Silent_p.F330F|ACHE_ENST00000419336.2_Silent_p.F330F|ACHE_ENST00000411582.1_Silent_p.F330F	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	330					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCACAGGCACGAAGGAGAACC	0.597000													11	56					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924404	24924404	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24924404G>A	ENST00000329468.2	+	1	3864	c.3390G>A	c.(3388-3390)gaG>gaA	p.E1130E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATGGACAGAGAGAAAATTCT	0.473000													29	128					0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6728318	6728318	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:6728318C>T	ENST00000297439.3	-	2	256	c.92G>A	c.(91-93)aGa>aAa	p.R31K		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	31					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		ATGATCAGATCTGTGGCCAAG	0.488000													11	48					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098919	64098919	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:64098919C>T	ENST00000539294.1	+	4	663	c.347C>T	c.(346-348)cCa>cTa	p.P116L	YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	117												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AATACCCCTCCATTTCTTGGT	0.408000													7	30					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792289	137792289	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:137792289A>G	ENST00000242375.3	+	7	860	c.818A>G	c.(817-819)aAa>aGa	p.K273R	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.K232R|AKR1D1_ENST00000432161.1_Missense_Mutation_p.K273R	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	273					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTCATTCCTAAAAGCTTTAAT	0.363000													19	105					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6897881	6897881	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6897881G>A	ENST00000379829.2	+	1	26	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	1					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)		GCAGAAGAATGATGTGGGAAA	0.408000													25	92					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504139	33504139	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:33504139C>T	ENST00000268876.5	+	16	2232	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	UNC45B_ENST00000433649.1_Missense_Mutation_p.P710L|UNC45B_ENST00000394570.2_Missense_Mutation_p.P710L|UNC45B_ENST00000378449.1_Missense_Mutation_p.P631L|UNC45B_ENST00000591048.1_Missense_Mutation_p.P631L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	712					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATTGCTTTTCCTGGGGAGCGG	0.577000													17	67					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158597465	158597465	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158597465C>T	ENST00000368148.3	-	40	5794	c.5614G>A	c.(5614-5616)Gag>Aag	p.E1872K	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.E1872K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1872					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCGGGTCTCATGGACAGCA	0.408000													15	93					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11976597	11976597	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11976597C>T	ENST00000339865.5	+	26	4338	c.3575C>T	c.(3574-3576)cCc>cTc	p.P1192L	USP47_ENST00000305481.6_3'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.P1280L|USP47_ENST00000539466.1_Missense_Mutation_p.P62L|USP47_ENST00000527733.1_Missense_Mutation_p.P1260L	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1280					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAACATTTCCCTGTGATATT	0.388000													11	54					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585978	102585978	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:102585978G>A	ENST00000251808.3	+	6	1155	c.817G>A	c.(817-819)Gga>Aga	p.G273R	GRHL2_ENST00000395927.1_Missense_Mutation_p.G257R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	273						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCTCAACAAAGGACAGTTCTA	0.507000													17	52					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60498607	60498607	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:60498607G>A	ENST00000360469.5	+	10	1561	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	CDH4_ENST00000543233.1_Silent_p.T417T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	491	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCAGTCCACGGCAGGGGTGA	0.612000													11	50					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950044	85950044	+	Missense_Mutation	SNP	G	G	A	rs149971925	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:85950044G>A	ENST00000373131.1	+	4	917	c.754G>A	c.(754-756)Gat>Aat	p.D252N	DACH2_ENST00000373125.4_Missense_Mutation_p.D265N|DACH2_ENST00000508860.1_Missense_Mutation_p.D98N|DACH2_ENST00000510272.1_Missense_Mutation_p.D46N	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATCCTCCTGGGATAAAGATAA	0.438000													6	15					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3275854	3275854	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:3275854G>A	ENST00000541430.2	+	4	431	c.394_splice	c.e4-1	p.R132_splice	CELF5_ENST00000292672.2_Splice_Site_p.R132_splice	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	132					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCGCCCACAGGGGACCGGAAG	0.682000													3	48					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169008849	169008849	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:169008849G>A	ENST00000354536.5	+	9	1090	c.870G>A	c.(868-870)ccG>ccA	p.P290P	SMOC2_ENST00000356284.2_Silent_p.P279P	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	279					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACGAGCAGCCGAAATGTGACA	0.612000													7	29					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849448	106849448	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:106849448C>T	ENST00000526355.1	-	3	852	c.384G>A	c.(382-384)aaG>aaA	p.K128K	GUCY1A2_ENST00000282249.2_Silent_p.K128K|GUCY1A2_ENST00000347596.2_Silent_p.K128K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	128					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.K128N(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TGTGGAAATTCTTTTCTGCAT	0.368000													10	33					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56482009	56482009	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:56482009C>T	ENST00000291971.3	+	6	2552	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	NLRP8_ENST00000590542.1_Silent_p.S827S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	827						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAAAAAACTCCCTGGAGAACT	0.498000													25	163					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223004	44223004	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:44223004C>T	ENST00000244314.5	+	2	493	c.294C>T	c.(292-294)ccC>ccT	p.P98P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	98						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AACCGTCGCCCTATCCACACC	0.647000													14	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307884	10307884	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10307884G>A	ENST00000403437.2	-	22	2545	c.2451C>T	c.(2449-2451)atC>atT	p.I817I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	817					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTATACTGGATGCAGAAAA	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	45					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402548	248402548	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248402548C>T	ENST00000306687.1	+	1	318	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TCTATGTGTCCCTGCTTGGAG	0.458000													6	36					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52520153	52520153	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52520153C>T	ENST00000270649.6	-	5	1242	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTGACCACTTCCAGGATTCTC	0.363000													18	53					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057305	22057305	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:22057305C>T	ENST00000256906.4	+	3	1052	c.952C>T	c.(952-954)Cca>Tca	p.P318S	HRH4_ENST00000426880.2_Missense_Mutation_p.P230S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	318						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTGCTGGGCTCCATATTCTCT	0.423000													41	169					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535036	10535036	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10535036G>A	ENST00000583535.1	-	36	5265	c.5178C>T	c.(5176-5178)caC>caT	p.H1726H	MYH3_ENST00000226209.7_Silent_p.H1726H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1726					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTCTTGGTGTGGATGAGGC	0.572000											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555716	44555716	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44555716C>T	ENST00000289547.4	-	18	3736	c.3681G>A	c.(3679-3681)agG>agA	p.R1227R	NPC1L1_ENST00000381160.3_Silent_p.R1200R|NPC1L1_ENST00000546276.1_Silent_p.R1154R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1227					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTCTTTGGCCCTCTCCAGCC	0.627000													7	15					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510337	56510337	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56510337C>T	ENST00000302957.3	-	1	950	c.951G>A	c.(949-951)agG>agA	p.R317R		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTGTTGCTTTCCTGAAGGCCT	0.393000													10	71					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56482034	56482034	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:56482034C>T	ENST00000291971.3	+	6	2577	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	NLRP8_ENST00000590542.1_Silent_p.L836L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	836						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCGTATTACCTGTCTGTGGC	0.463000													23	176					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5275566C>T	ENST00000380259.2	-	7	1511	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG2_ENST00000336906.4_Missense_Mutation_p.E91K|HBG2_ENST00000380252.1_Missense_Mutation_p.E81K					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		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)		CAGTGCAGTTCACTCAGCTGG	0.507000													8	139					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859235	176859235	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:176859235C>T	ENST00000355472.5	+	4	431	c.261_splice	c.e4-1	p.A88_splice	GRK6_ENST00000507633.1_Splice_Site_p.A88_splice|GRK6_ENST00000355958.5_Splice_Site_p.A88_splice|GRK6_ENST00000393576.3_Splice_Site_p.A88_splice|GRK6_ENST00000528793.1_Splice_Site_p.A88_splice	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	88	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCCTGCAGGCCGAGTATGAA	0.627000													13	102					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046504	42046504	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:42046504C>T	ENST00000372584.1	-	3	4979	c.3965G>A	c.(3964-3966)cGt>cAt	p.R1322H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1322H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1322H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1322H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1322					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTCTGAACACGGACAGGCAC	0.597000													23	108					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545595	23545595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:23545595C>T	ENST00000376979.3	-	3	732	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	145						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCAGTGGAATCCCTCCAAGCA	0.537000													30	103					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160073835	160073835	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:160073835G>A	ENST00000326448.7	-	8	1175	c.743C>T	c.(742-744)tCg>tTg	p.S248L	IFT80_ENST00000483465.1_Missense_Mutation_p.S111L|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S419L|IFT80_ENST00000496589.1_Missense_Mutation_p.S111L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	248						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTATGAAACGATCCAACAGC	0.443000													21	111					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101777419	101777419	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101777419G>A	ENST00000261637.4	+	60	8202	c.8028G>A	c.(8026-8028)cgG>cgA	p.R2676R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2676					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTGTTTCGGGAACTCAACA	0.463000													23	125					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774920	122774920	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:122774920C>T	ENST00000227349.2	+	3	929	c.632C>T	c.(631-633)tCa>tTa	p.S211L	C11orf63_ENST00000531316.1_Missense_Mutation_p.S211L|C11orf63_ENST00000307257.6_Missense_Mutation_p.S211L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	211										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCCGTTTTCAGAGCTGAGC	0.517000													15	79					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28259931	28259931	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:28259931G>A	ENST00000354638.3	-	9	1190	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	OCA2_ENST00000353809.5_Silent_p.I345I|OCA2_ENST00000382996.2_Silent_p.I345I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	345					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTCAAATATGATCAGCGCGT	0.577000									Oculocutaneous Albinism				9	32					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608172	29608172	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:29608172C>T	ENST00000431530.3	+	2	2444	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	786	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGCAGGATTCTGATTGCAAG	0.517000													14	36					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153542	139153542	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139153542C>T	ENST00000395297.1	-	17	3859	c.3689G>A	c.(3688-3690)cGg>cAg	p.R1230Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1230								p.R1230Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAACCGGGGCCGTGTGAGGAC	0.537000										HNSCC(54;0.14)			22	103					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521277	27521277	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:27521277G>A	ENST00000544915.1	+	2	333	c.114G>A	c.(112-114)atG>atA	p.M38I	ARNTL2_ENST00000546179.1_Missense_Mutation_p.M49I|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000395901.2_Missense_Mutation_p.M49I|ARNTL2_ENST00000266503.5_Missense_Mutation_p.M38I|ARNTL2_ENST00000261178.5_Missense_Mutation_p.M38I|ARNTL2_ENST00000311001.5_Missense_Mutation_p.M38I|ARNTL2_ENST00000542388.1_Start_Codon_SNP_p.M1I	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	38					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACAGCTATGGGGTCTTTCA	0.502000													9	68					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719928	40719928	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40719928C>T	ENST00000253055.3	+	9	2630	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	781					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ccctccccgcccgcgcccaca	0.711000													3	10					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16455930	16455930	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:16455930C>T	ENST00000358432.5	-	16	2978	c.2825_splice	c.e16+1	p.D942_splice		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	942	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGACTTACTCGTTGGTCATC	0.637000													23	123					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63102156	63102156	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:63102156G>A	ENST00000561311.1	+	51	6926	c.6696G>A	c.(6694-6696)gaG>gaA	p.E2232E	TLN2_ENST00000306829.6_Silent_p.E2232E			Q9Y4G6	TLN2_HUMAN	talin 2	2232					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAGTGACGAGGTGAGAACCA	0.547000													9	58					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400519	83400519	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:83400519C>T	ENST00000262752.2	-	6	475	c.468G>A	c.(466-468)agG>agA	p.R156R	RPS6KA6_ENST00000543399.1_Silent_p.R156R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	156	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CATCTCCTCCCCTGAGAAAAT	0.303000													4	8					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671229	7671229	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7671229C>T	ENST00000446248.2	+	3	576	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P159S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	159					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGCCAGGTCCCTTGGCCCT	0.622000													20	118					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263642	3263642	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:3263642C>T	ENST00000520002.1	-	16	2731	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D725N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D725N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D726N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D726N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D725N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D726N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	726	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAAAGCCATCATCACAGTGG	0.527000													7	26					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184106376	184106376	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:184106376G>A	ENST00000204604.1	+	21	2802	c.2554_splice	c.e21-1	p.V852_splice	CHRD_ENST00000348986.3_Splice_Site_p.V812_splice|CHRD_ENST00000545352.1_Splice_Site_p.V394_splice|CHRD_ENST00000450923.1_Splice_Site_p.V852_splice|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	852					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCAACAGTGGGGTCGGGGG	0.587000													53	148					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98750402	98750402	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:98750402G>A	ENST00000477737.1	+	7	1192	c.988_splice	c.e7+1	p.G330_splice	VWA3B_ENST00000435344.1_Splice_Site_p.G330_splice|VWA3B_ENST00000451075.2_Splice_Site_p.G180_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTCCCTCCAGGTACCTGGAA	0.458000													15	57					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811603	102811603	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:102811603C>T	ENST00000307046.8	-	4	762	c.581G>A	c.(580-582)gGa>gAa	p.G194E	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000424202.2_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	194					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCTTCATTTTCCTTTTTTGCC	0.438000													55	221					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712832	70712832	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70712832C>T	ENST00000530196.1	-	0	1686					NR_003951.1																						CCAAAAATCTCCCTGCAATGC	0.423000													4	65					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94669541	94669541	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94669541G>A	ENST00000260526.6	-	8	889	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S236F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	236					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCTAGTGGACTCCAATTC	0.348000													5	31					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460533	66460533	+	Silent	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:66460533T>A	ENST00000404260.3	+	29	5843	c.5535T>A	c.(5533-5535)gtT>gtA	p.V1845V	MAST4_ENST00000261569.7_Silent_p.V1648V|MAST4_ENST00000405643.1_Silent_p.V1663V|MAST4_ENST00000403666.1_Silent_p.V1653V|MAST4_ENST00000403625.2_Silent_p.V1842V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1845						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGCCACCAGTTCTCCCCAGCA	0.557000													18	49					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013597	133013597	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:133013597G>A	ENST00000367928.4	-	5	966	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	318	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCTGGCATAGGAAGTCCAGTT	0.443000													5	34					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79284704	79284704	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:79284704C>T	ENST00000264895.6	+	21	2900	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	FRAS1_ENST00000325942.6_Silent_p.L820L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	820					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCTGATCTCCACAACACTG	0.577000													11	21					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369106	158369106	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158369106G>A	ENST00000334438.1	-	1	150	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCTGAAGCGAATAACGGCC	0.483000													4	23					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467485	168467485	+	Silent	SNP	G	G	A	rs140475200	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:168467485G>A	ENST00000283309.6	-	4	475	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.F69F	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	137	FERM.					cytoskeleton	binding	p.F137F(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAAGGCCACGAAGGGGGCTC	0.547000													10	65					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43244515	43244515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43244515G>A	ENST00000327495.5	-	1	206	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	PSG3_ENST00000595140.1_Missense_Mutation_p.P8S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	8					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTGTGCAGGGAGGGGCTGAG	0.607000													39	203					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693001	187693001	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:187693001G>A	ENST00000295131.2	-	9	1651	c.1612C>T	c.(1612-1614)Cac>Tac	p.H538Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	538					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGACTAGTGTGAAATTTTCCA	0.398000													14	28					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687850	27687850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:27687850C>T	ENST00000438700.3	-	4	1794	c.1677G>A	c.(1675-1677)tgG>tgA	p.W559*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	559					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAAATGAGGGCCATTTTGGGT	0.383000													11	56					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399786	46399786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46399786G>A	ENST00000292301.4	+	2	1253	c.768G>A	c.(766-768)tgG>tgA	p.W256*	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Nonsense_Mutation_p.W256*|CCR2_ENST00000445132.2_Nonsense_Mutation_p.W256*	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	256					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTCTCTTCTGGACTCCCTATA	0.478000													43	118					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923805	24923805	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24923805C>T	ENST00000329468.2	+	1	3265	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTAACATCTCCTTCAGTCCA	0.488000													14	97					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275475	233275475	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:233275475C>T	ENST00000258229.8	-	20	3878	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R348Q|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1215						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)				ACCAAGTCTCCGGTGATTGCT	0.358000													3	8					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52942971	52942971	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:52942971C>T	ENST00000295213.4	+	7	1159	c.785C>T	c.(784-786)cCt>cTt	p.P262L	SPATA18_ENST00000419395.2_Missense_Mutation_p.P230L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	262	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCCCAGCCCTGCCCCTCGC	0.587000													6	65					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8389285	8389285	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8389285C>T	ENST00000381196.4	-	34	4876	c.4333G>A	c.(4333-4335)Gaa>Aaa	p.E1445K	PTPRD_ENST00000397611.3_Missense_Mutation_p.E1035K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1445K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1423K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1035K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1038K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1445K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1039K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1038K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1038K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1432K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1445	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCCGTTGTTCCCATATCATT	0.403000										TSP Lung(15;0.13)			27	96					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521373	125521373	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:125521373G>A	ENST00000431078.1	+	15	2720	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	786	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGCTATGGTGACCGTGAGTA	0.458000													8	8					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375845	175375845	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:175375845C>T	ENST00000367674.1	-	3	714	c.6G>A	c.(4-6)ggG>ggA	p.G2G	TNR_ENST00000263525.2_Silent_p.G2G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	2					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCCATCTGCCCCCATCCTCT	0.532000													14	139					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48592750	48592750	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48592750G>A	ENST00000358350.4	-	17	2037	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	FRYL_ENST00000506685.1_Missense_Mutation_p.P184L|FRYL_ENST00000503238.1_Missense_Mutation_p.P478L|FRYL_ENST00000507711.1_Missense_Mutation_p.P478L|FRYL_ENST00000537810.1_Missense_Mutation_p.P478L|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTCCTGAGGGAAGAATAAC	0.363000													9	75					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194151735	194151735	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:194151735G>A	ENST00000439040.1	-	24	3352	c.2561C>T	c.(2560-2562)aCc>aTc	p.T854I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T854I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	854					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGCAAACACGGTGCCATGCAA	0.368000													23	88					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81283950	81283950	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:81283950G>A	ENST00000358105.3	+	2	203	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	C4orf22_ENST00000508675.1_Missense_Mutation_p.G52R|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	52										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGGCTACCGAGGGACTGGAGA	0.458000													21	137					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36483234	36483234	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36483234G>A	ENST00000229812.7	-	7	835	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	184	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCTGTCAGAGTGTCTTTT	0.418000													21	91					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040355	193040355	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193040355T>C	ENST00000342358.4	-	15	1800	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	561					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)		CAATGCAATCTTCCATTTTCT	0.294000													10	60					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983187	57983187	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57983187C>T	ENST00000309433.6	+	1	971	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAAATTTCTTCCCTTTGATGC	0.413000													16	113					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093406	30093406	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:30093406C>T	ENST00000567636.1	+	0	1781					NR_003558.1																						CCCACCAGCTCCCTTGCTGAA	0.517000													9	50					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626592	140626592	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140626592C>T	ENST00000231173.3	+	1	1446	c.1446C>T	c.(1444-1446)acC>acT	p.T482T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		482	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGGGCACCAACGCCCAGG	0.657000													44	168					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31338098	31338098	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:31338098C>T	ENST00000215862.4	-	8	1764		c.e8+1		MORC2_ENST00000469915.1_Splice_Site|MORC2_ENST00000397641.2_Splice_Site	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGCCTACTTACCGCTGTCCCC	0.502000													16	78					0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180672	43180672	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:43180672G>A	ENST00000398795.2	+	5	721	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	TNFSF11_ENST00000544862.1_Missense_Mutation_p.R118Q|TNFSF11_ENST00000405262.2_Missense_Mutation_p.R118Q|TNFSF11_ENST00000358545.2_Missense_Mutation_p.R118Q|TNFSF11_ENST00000239849.6_Missense_Mutation_p.R191Q	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	191					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TACCATGATCGGGGTTGGGCC	0.418000													18	71					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608252	29608252	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:29608252C>T	ENST00000431530.3	+	2	2524	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	812	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S822S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTACAGTTCCGATCCTTCAG	0.463000													26	41					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411914	48411914	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:48411914C>T	ENST00000435803.1	+	33	10977	c.10953C>T	c.(10951-10953)ttC>ttT	p.F3651F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3651					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						TTATTGTTTTCCTCTTTCTCT	0.468000													14	158					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858184	9858184	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:9858184C>T	ENST00000396573.2	-	14	3526	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1073K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1073K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E916K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1073K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1073K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1073					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	p.E1073K(2)		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)	TTGTCAGGTTCCCTGTGGCAC	0.502000													16	73					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43652797	43652797	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:43652797G>A	ENST00000378069.4	-	8	944	c.797C>T	c.(796-798)cCt>cTt	p.P266L	MAOB_ENST00000536181.1_Missense_Mutation_p.P250L|MAOB_ENST00000538942.1_Missense_Mutation_p.P250L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	266					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.P266L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCCCAGAGTAGGAGGAATAGC	0.408000													29	34					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127496	44127496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:44127496C>T	ENST00000222374.2	-	9	1201	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	385					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ATGAAGAATTCCTCTTTCCTC	0.577000													30	139					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215940	8215940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8215940C>T	ENST00000361926.3	+	2	693	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ARHGEF15_ENST00000421050.1_Nonsense_Mutation_p.Q195*	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	195					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGTGGGTCCCAGGAGAACGG	0.617000													7	44					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91740286	91740286	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:91740286C>T	ENST00000370425.3	-	33	3767		c.e33+1		HFM1_ENST00000462405.1_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TATATTTGTACCTTGATATAC	0.323000													5	27					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141797419C>T	ENST00000475668.2	+	66	7773	c.7719C>T	c.(7717-7719)ttC>ttT	p.F2573F	MGAM_ENST00000549489.2_Silent_p.F1677F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1677					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000													12	72					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:65527628G>A	ENST00000310193.3	-	4	1185	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000													13	47					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21605873	21605873	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:21605873G>A	ENST00000392288.2	+	4	521	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	ZNF493_ENST00000355504.4_Missense_Mutation_p.G10S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCACAAAGAAGGTTATAATGA	0.284000													16	79					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103370	57103370	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:57103370G>A	ENST00000439986.4	-	11	1028	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	CCBE1_ENST00000398179.2_Missense_Mutation_p.P60S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	331	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAACCAGGGGGTCCCTGTGTA	0.532000													17	66					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065038	119065038	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119065038G>A	ENST00000328252.3	+	10	3325	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.E24K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	986					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTTTGCAGATGAACCCAGCCG	0.443000													12	22					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772975	6772975	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:6772975C>T	ENST00000304076.2	+	1	251	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	VAV1_ENST00000539284.1_5'UTR|VAV1_ENST00000596764.1_Missense_Mutation_p.H53Y|VAV1_ENST00000602142.1_Missense_Mutation_p.H53Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	53	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657000													36	200					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108221	32108221	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:32108221G>A	ENST00000327423.6	-	4	5793	c.5604C>T	c.(5602-5604)tcC>tcT	p.S1868S	PRR14L_ENST00000397493.2_Silent_p.S1868S|PRR14L_ENST00000434485.1_Silent_p.S1868S	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1868										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGTCTGCTATGGAGGCTGGAG	0.527000													24	121					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5731072	5731072	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:5731072C>T	ENST00000382674.2	+	3	523	c.339C>T	c.(337-339)ttC>ttT	p.F113F	EVC_ENST00000509451.1_Silent_p.F113F|EVC_ENST00000264956.6_Silent_p.F113F			P57679	EVC_HUMAN	Ellis van Creveld syndrome	113					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483000													15	79					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60988583	60988583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:60988583G>A	ENST00000252998.1	-	11	1705	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGGGACCCTGGAAGTGGGCGT	0.637000													13	46					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824382	114824382	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:114824382C>T	ENST00000315366.7	-	2	1714	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	ARSJ_ENST00000541197.1_Missense_Mutation_p.R283Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	283						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GATAATGGATCGGTAGTGTTC	0.413000													26	73					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765819	14765819	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14765819G>A	ENST00000253673.5	-	6	652	c.552C>T	c.(550-552)gtC>gtT	p.V184V	EMR3_ENST00000344373.4_Silent_p.V132V|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	184					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGATTTTCAGGACTTTTTGTT	0.433000													17	87					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39816481	39816481	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:39816481C>T	ENST00000564288.1	+	43	11767	c.10990C>T	c.(10990-10992)Cgt>Tgt	p.R3664C	MACF1_ENST00000317713.7_Missense_Mutation_p.R1602C|MACF1_ENST00000372915.3_Missense_Mutation_p.R3669C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.R1602C|MACF1_ENST00000567887.1_Missense_Mutation_p.R3701C|MACF1_ENST00000289893.4_Missense_Mutation_p.R2104C|MACF1_ENST00000545844.1_Missense_Mutation_p.R1602C|MACF1_ENST00000539005.1_Missense_Mutation_p.R1602C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3669					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)			CATTCAGAATCGTGCCACCTC	0.443000													6	53					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193002	132193002	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:132193002C>T	ENST00000359827.3	-	2	1413	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PLXNA4_ENST00000423507.2_Missense_Mutation_p.E151K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.E151K|PLXNA4_ENST00000378539.5_Missense_Mutation_p.E151K			Q9HCM2	PLXA4_HUMAN	plexin A4	151	Sema.					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						TGATAAGGCTCCCCCAGCTTG	0.532000													17	78					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510965	56510965	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56510965G>A	ENST00000302957.3	-	1	322	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCAGCCAAGGAAATGCGCTT	0.458000													24	110					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100457	184100457	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:184100457C>T	ENST00000204604.1	+	8	1123	c.877C>T	c.(877-879)Cca>Tca	p.P293S	CHRD_ENST00000348986.3_Missense_Mutation_p.P293S|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.P293S|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	293	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAGGCCCCCCACAGCAGGG	0.587000													28	139					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603315	101603315	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101603315G>A	ENST00000536262.2	-	1	870	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	104					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAACACCGGGAGGAAGACCT	0.592000													5	20					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52521264	52521264	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52521264G>A	ENST00000270649.6	-	4	779	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF614_ENST00000356322.6_Missense_Mutation_p.P79S	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CACTTACCTGGACAATTTTTA	0.403000													4	22					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028187	45028187	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:45028187C>T	ENST00000454753.1	-	0	582							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGTTGGAAACCCAGTGGATG	0.537000													8	32					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139082	126139082	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126139082G>A	ENST00000299308.3	+	9	3071	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	TMEM132B_ENST00000535886.1_Silent_p.R533R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1021						integral to membrane		p.R1021R(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCCAAAGAGGAAGAGAGTCA	0.458000													12	51					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854125	12854125	+	Missense_Mutation	SNP	C	C	T	rs141554509		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:12854125C>T	ENST00000332296.7	+	3	452	c.349C>T	c.(349-351)Cct>Tct	p.P117S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	117										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCAGATGGCCTGGAGCCTG	0.537000													53	307					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509557	71509557	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71509557G>A	ENST00000396073.3	+	9	2695	c.2414G>A	c.(2413-2415)gGt>gAt	p.G805D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	805					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GACCAGAAAGGTAACCAGCCC	0.453000													10	53					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970962	10970962	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:10970962G>A	ENST00000254488.2	+	10	1374	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTTACCGGCGGGAGCTGCTCA	0.562000													49	250					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826334	22826334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:22826334C>T	ENST00000261374.3	+	1	837	c.403C>T	c.(403-405)Cga>Tga	p.R135*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	135						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)		GGAGTTTATCCGAGTACACCC	0.637000													10	38					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021498	96021498	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:96021498G>A	ENST00000297954.4	+	11	2668	c.2668G>A	c.(2668-2670)Gcc>Acc	p.A890T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A502T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A890T|WNK2_ENST00000349097.3_Missense_Mutation_p.A502T			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	890					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCTGGCCGTAGCCCCACCGGG	0.687000													13	50					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124537	142124537	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142124537G>A	ENST00000390376.2	-	0	28																											GAGAGAAAAGGCCGCACAGCA	0.597000													17	152					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000													17	89					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910144	38910144	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38910144C>T	ENST00000312150.4	-	3	697	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	213	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TAAGTCATCTCCTCACTCAGG	0.448000													27	126					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979020	979020	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:979020C>T	ENST00000379370.2	+	9	1756	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	569	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTGGCTCCGACGGGCAC	0.682000													17	114					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393411	164393411	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:164393411C>T	ENST00000280605.3	-	1	1636	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	492						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTGGCCAATCTCAAAATTTT	0.463000													15	108					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422092	53422092	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:53422092C>T	ENST00000377942.3	-	1	683	c.480G>A	c.(478-480)gtG>gtA	p.V160V	PCDH8_ENST00000338862.4_Silent_p.V160V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	160	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTCCTCGTCCACCGGCACCT	0.721000													6	22					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305285	61305285	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:61305285C>T	ENST00000341074.5	-	8	956	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D229N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAGTGTAAATCGACACATGTC	0.403000													7	40					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760588	176760588	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:176760588G>A	ENST00000367662.3	+	19	6154	c.4990G>A	c.(4990-4992)Gag>Aag	p.E1664K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1664	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V1663fs*17(1)		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						GAATTCTGTGGAGTACAAATG	0.423000													13	50					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65185812	65185812	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:65185812G>A	ENST00000358691.5	-	11	923	c.756_splice	c.e11-1	p.L253_splice	HELZ_ENST00000580168.1_Splice_Site_p.L253_splice	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATTCACTAAGCTGAAAACAG	0.378000													13	59					0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4847480	4847480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:4847480C>T	ENST00000322048.7	-	11	1223	c.845G>A	c.(844-846)tGg>tAg	p.W282*		NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	282						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TCTGTAGCTCCAGTAGCTGGA	0.602000													8	40					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3266305G>A	ENST00000576468.1	+	0	418																											TCCACAAAGGGAAGATGGAAA	0.527000													11	69					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716717	716717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:716717G>A	ENST00000549091.1	+	39	5027	c.4935G>A	c.(4933-4935)tgG>tgA	p.W1645*	WDR90_ENST00000315764.4_Nonsense_Mutation_p.W194*|WDR90_ENST00000547944.1_Nonsense_Mutation_p.W242*|WDR90_ENST00000293879.4_Nonsense_Mutation_p.W1643*|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1643										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCTGCCCTTGGGATGGGGCGC	0.642000													13	67					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62650391	62650391	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62650391A>C	ENST00000377892.1	+	7	1230	c.1006A>C	c.(1006-1008)Att>Ctt	p.I336L	SLC3A2_ENST00000377889.2_Missense_Mutation_p.I243L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.I306L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.I204L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.I305L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.I274L			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	305					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CATCCGTGTCATTCTGGACCT	0.483000													22	106					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11672468	11672468	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11672468C>T	ENST00000262442.3	+	38	7442	c.7374C>T	c.(7372-7374)atC>atT	p.I2458I	DNAH9_ENST00000454412.2_Silent_p.I2458I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2458	AAA 3 (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)		GTGAGACCATCCGTGTGTGCT	0.617000													23	128					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169378	53169378	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53169378G>A	ENST00000332411.2	-	2	662	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	203	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCCAGGAACCGCACCT	0.567000													20	78					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127724	93127724	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93127724G>A	ENST00000298050.3	+	10	1241	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CCDC67_ENST00000525646.1_Missense_Mutation_p.E123K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	381										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCATCAGAAGGAGATCACTAT	0.373000													4	18					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614302	108614302	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:108614302A>T	ENST00000264047.2	+	5	733	c.457A>T	c.(457-459)Atc>Ttc	p.I153F	SLC5A7_ENST00000540517.1_Missense_Mutation_p.I48F|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I153F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	153					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGGAGCCACCATCAGCGTGAT	0.453000													118	198					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78390807	78390807	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:78390807G>A	ENST00000328828.5	+	4	514	c.514G>A	c.(514-516)Gca>Aca	p.A172T	SH2D7_ENST00000409568.2_Missense_Mutation_p.A36T	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	172										endometrium(2)|kidney(2)|lung(3)	7						ACCTGCCACGGCATTCCTCAC	0.607000													9	57					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451411	155451411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:155451411C>T	ENST00000461783.3	+	6	2327	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	TIAM2_ENST00000360366.4_Nonsense_Mutation_p.Q352*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.Q352*|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.Q352*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.Q352*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	352					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGACCCCATCCAGTACAGTTC	0.547000													16	70					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273980	125273980	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:125273980C>T	ENST00000335302.5	+	1	900	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGAAAGAGGCCCTTGGGAAAC	0.393000													11	45					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904661	100904661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:100904661C>T	ENST00000548884.1	+	4	726	c.185C>T	c.(184-186)tCc>tTc	p.S62F	NR1H4_ENST00000549996.1_Missense_Mutation_p.S62F|NR1H4_ENST00000392986.3_Missense_Mutation_p.S62F|NR1H4_ENST00000551379.1_Missense_Mutation_p.S72F|NR1H4_ENST00000188403.7_Missense_Mutation_p.S72F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	72					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CCACAGATTTCCTCGTCATCC	0.483000													11	71					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8500899	8500899	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8500899C>T	ENST00000381196.4	-	21	2526	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.E661E|PTPRD_ENST00000358503.5_Silent_p.E648E|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Silent_p.E661E|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Silent_p.E648E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	661	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCCAAAATCTCGTGAGGCT	0.463000										TSP Lung(15;0.13)			35	167					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33858887	33858887	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:33858887C>T	ENST00000389232.4	+	12	1225	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	RYR3_ENST00000415757.3_Silent_p.L385L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	385	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGTCATACTCCATCAGGAAG	0.517000													33	92					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888463	97888463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97888463G>A	ENST00000356526.2	+	1	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R307K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGTTAAAAAGAAATGTTAAG	0.303000													4	11					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773463	51773463	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:51773463C>T	ENST00000543196.2	-	2	308	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E35K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	35					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGGCCTCCTCTCTGCTGCTC	0.602000													13	62					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763636	110763636	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:110763636C>T	ENST00000317735.4	+	6	766	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	244					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGTCTGTGATCATGATCTGCA	0.388000													7	115					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138866	126138866	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126138866G>A	ENST00000299308.3	+	9	2855	c.2847G>A	c.(2845-2847)ggG>ggA	p.G949G	TMEM132B_ENST00000535886.1_Silent_p.G461G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	949						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTGGCTTGGGAATGAAGTGG	0.517000													16	65					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534519	50534519	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:50534519G>A	ENST00000267845.3	-	12	2329	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	HDC_ENST00000543581.1_Missense_Mutation_p.P610S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	643					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTGCATTCAGGAAAGCTGGGG	0.488000													16	79					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494534	169494534	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:169494534G>A	ENST00000256935.8	+	45	4568	c.4488G>A	c.(4486-4488)gaG>gaA	p.E1496E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.E557E|DOCK2_ENST00000520908.1_Silent_p.E988E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1496	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTCTGGAGAATGCCATAG	0.423000													15	69					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738480	51738480	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51738480G>A	ENST00000436584.2	+	4	488	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD33_ENST00000421133.2_Missense_Mutation_p.A145T|CD33_ENST00000391796.3_Missense_Mutation_p.A272T|CD33_ENST00000262262.4_Missense_Mutation_p.A272T			P20138	CD33_HUMAN	CD33 molecule	272	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGCCCTGCTCGCTCTTTGTCT	0.522000													16	46					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833815	45833815	+	Missense_Mutation	SNP	G	G	A	rs148308750		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:45833815G>A	ENST00000397928.1	+	20	3449	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	TRPM2_ENST00000397932.2_Missense_Mutation_p.D1002N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D1002N|TRPM2_ENST00000300481.9_Missense_Mutation_p.D982N|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1002						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						CAATGGCACCGACCCCTACAA	0.607000													79	305					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504698	61504698	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:61504698C>T	ENST00000257215.5	+	14	1532	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	472					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGGGCCACTCCCTGGGCGCGG	0.652000													43	236					0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398014	131398014	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:131398014C>T	ENST00000296870.2	+	3	392	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	72					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GGAAAATAACCTTCGAAGGCC	0.488000													69	357					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235772	25235772	+	Silent	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:25235772G>T	ENST00000219660.5	+	4	602	c.477G>T	c.(475-477)gtG>gtT	p.V159V	AQP8_ENST00000566125.1_Silent_p.V153V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	159					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGGCGTTGGTGGCAGAGATCA	0.612000													9	71					2.17888e-05	2.19037e-05	1	1	0
TMEM52	339456	broad.mit.edu	37	1	1849476	1849476	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:1849476C>T	ENST00000378602.3	-	2	670	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	TMEM52_ENST00000310991.3_Missense_Mutation_p.E159K			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	159						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGACAGCTTCATCGTAGGAG	0.642000													25	162					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478857	142478857	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142478857C>T	ENST00000603901.1	+	0	18					NR_001296.3																						CACTCCTGATCCTTGCCTTTG	0.577000													16	73					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955088	104955088	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:104955088C>T	ENST00000507740.1	+	11	2247	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P718S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P657S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P879S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	941	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P671S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTGCCACTTCCCCACCCTTC	0.388000										HNSCC(12;0.0054)			12	37					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724614	112724614	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:112724614G>A	ENST00000501255.2	-	3	786	c.163C>T	c.(163-165)Cct>Tct	p.P55S	GPR85_ENST00000297146.2_Missense_Mutation_p.P55S|GPR85_ENST00000449591.1_Missense_Mutation_p.P55S|GPR85_ENST00000424100.1_Missense_Mutation_p.P55S	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTAGTAAGGTGCTCTATGC	0.428000													13	132					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690917	49690917	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:49690917C>T	ENST00000296452.4	+	5	4042	c.3928C>T	c.(3928-3930)Cct>Tct	p.P1310S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1310					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCCTTACCCCTGGTACCAG	0.557000													33	143					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57214079	57214079	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57214079T>G	ENST00000396721.2	-	6	888	c.758A>C	c.(757-759)cAt>cCt	p.H253P	SDR16C5_ENST00000303749.3_Missense_Mutation_p.H297P|SDR16C5_ENST00000522671.1_3'UTR			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	297					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATCCATTGCATGAAGGATGCC	0.383000													18	113					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41001332	41001332	+	Silent	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:41001332C>A	ENST00000253799.3	+	2	1845	c.1818C>A	c.(1816-1818)ccC>ccA	p.P606P	AOC2_ENST00000452774.2_Intron	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	606					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCACAGCCCCCTTGGCATAC	0.627000													53	236					4.60343e-24	4.66597e-24	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814118	137814118	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:137814118G>A	ENST00000409968.1	+	3	446	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E59K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E90K					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)		GCCTCCAAAGGAAAGAAGTTG	0.537000													13	30					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241838	120241838	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:120241838C>T	ENST00000274024.3	-	2	514	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	76							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GAGTTCAGTTCCGTCTGCTAG	0.318000													7	37					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772375	111772375	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:111772375C>T	ENST00000261726.6	+	19	3211	c.3057C>T	c.(3055-3057)tcC>tcT	p.S1019S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1019						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGGCCGCTCCAGCTCCTCGT	0.657000													15	48					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474348	99474348	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99474348G>A	ENST00000316368.2	-	1	332	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GACACAAATAGAGGAAGTGCT	0.468000													12	85					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579246	33579246	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33579246C>T	ENST00000228567.3	-	2	632	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	112						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCTTTTTTCTCTTCAGTCT	0.428000													8	48					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125558421	125558421	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:125558421G>A	ENST00000316519.6	+	2	339		c.e2-1		AACS_ENST00000261686.6_Splice_Site	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase						fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTCATTTTTAGAGAGTTATGA	0.418000													15	49					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918727	31918727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:31918727G>A	ENST00000396184.3	-	5	511	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PDE1C_ENST00000396182.2_Nonsense_Mutation_p.R103*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.R103*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.R163*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.R103*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCCAGTCTCGGACCTCAGAA	0.552000													7	62					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53594030	53594030	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53594030T>C	ENST00000267082.5	-	3	429	c.198A>G	c.(196-198)caA>caG	p.Q66Q	ITGB7_ENST00000338737.4_Silent_p.Q66Q|ITGB7_ENST00000550743.2_Silent_p.Q66Q|ITGB7_ENST00000422257.3_Silent_p.Q66Q	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	66					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTTACCAGTTGCTTGCACC	0.522000													6	47					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334199	57334199	+	Missense_Mutation	SNP	G	G	A	rs151090043		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57334199G>A	ENST00000326441.9	-	6	850	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	ZIM2_ENST00000593711.1_Missense_Mutation_p.R38W|ZIM2_ENST00000599935.1_Missense_Mutation_p.R38W|PEG3_ENST00000423103.2_Missense_Mutation_p.R163W|ZIM2_ENST00000593931.1_Missense_Mutation_p.R38W|PEG3_ENST00000593695.1_Missense_Mutation_p.R37W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R38W|PEG3_ENST00000598410.1_Missense_Mutation_p.R38W|ZIM2_ENST00000221722.5_Missense_Mutation_p.R38W|ZIM2_ENST00000391708.3_Missense_Mutation_p.R38W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	163					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)		TCCCAGTCCCGGTCACCTAAG	0.532000													3	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497030	216497030	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:216497030G>A	ENST00000366943.2	-	8	1722	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	USH2A_ENST00000307340.3_Missense_Mutation_p.P446S|USH2A_ENST00000366942.3_Missense_Mutation_p.P446S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	446	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGGAATATGGAGTAAAACTG	0.343000										HNSCC(13;0.011)			7	66					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95392468	95392468	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:95392468A>G	ENST00000336148.5	-	12	2276	c.2152T>C	c.(2152-2154)Tta>Cta	p.L718L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTGAACTTAACAAAAAAATA	0.378000								Direct reversal of damage;Homologous recombination					9	41					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594132	6594132	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:6594132G>A	ENST00000433363.2	-	10	1636	c.1403C>T	c.(1402-1404)aCc>aTc	p.T468I	SLC13A5_ENST00000381074.4_Missense_Mutation_p.T425I|SLC13A5_ENST00000573648.1_Missense_Mutation_p.T468I|SLC13A5_ENST00000293800.6_Missense_Mutation_p.T451I	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	468						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAAGGTGGTGGTGGCCACGTT	0.562000													49	197					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702859	181702859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:181702859C>T	ENST00000526775.1	+	20	3343	c.3178C>T	c.(3178-3180)Ccc>Tcc	p.P1060S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P686S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1060S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1079S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1079S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1030S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1011S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1079					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						CGACGTGGACCCCTTGGTGGA	0.627000													7	27					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962271	2962271	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:2962271C>T	ENST00000396946.4	-	17	2669	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	756					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTCTCACCTTCGTGGTTGACC	0.627000			Mis		DLBCL								21	68					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216966	21216966	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21216966G>A	ENST00000380216.1	-	1	344	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCAGTTGCTGGAAAAGTTCAA	0.473000													36	132					0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911041	62911041	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62911041C>T	ENST00000417740.1	-	1	652	c.211G>A	c.(211-213)Gac>Aac	p.D71N	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.D71N	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						CTCAGGAGGTCATCCTTGCTG	0.557000													4	26					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912662	76912662	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:76912662C>T	ENST00000409709.3	+	36	5294	c.5022C>T	c.(5020-5022)acC>acT	p.T1674T	MYO7A_ENST00000409619.2_Silent_p.T1625T|MYO7A_ENST00000458637.2_Silent_p.T1636T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1674					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACTGTCACCATGCCACCGC	0.592000													18	63					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402361	248402361	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248402361C>T	ENST00000306687.1	+	1	131	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			GAAAATATTTCCATGGTTCTC	0.478000													19	84					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487105	155487105	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:155487105G>A	ENST00000302068.4	+	2	323	c.260G>A	c.(259-261)aGa>aAa	p.R87K	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	87			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGTAGAAAGAAAAGCCCCT	0.582000													6	29					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798364	185798364	+	Missense_Mutation	SNP	G	G	A	rs145158210		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:185798364G>A	ENST00000302277.6	+	3	884	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	97						intracellular	zinc ion binding	p.R97Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTGCTCGAAATGTAGCA	0.368000													8	34					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550180	31550180	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31550180C>T	ENST00000429299.2	-	1	22	c.15G>A	c.(13-15)ggG>ggA	p.G5G	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Silent_p.G5G	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	5					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TGCCCTCCAGCCCCAGTGCCC	0.652000													13	41					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164989	139164989	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139164989C>T	ENST00000395297.1	-	13	1899	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	577										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCCTACTCTCATGCTGAGCA	0.488000										HNSCC(54;0.14)			21	102					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49841189	49841189	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49841189G>A	ENST00000535669.2	+	5	464	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	CD37_ENST00000598095.1_Missense_Mutation_p.R49Q|CD37_ENST00000596426.1_3'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Missense_Mutation_p.R49Q|CD37_ENST00000323906.4_Missense_Mutation_p.R117Q			P11049	CD37_HUMAN	CD37 molecule	117						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CAGCTGGAGCGAAGCTTGCGG	0.637000													16	63					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65852574	65852574	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:65852574C>T	ENST00000395325.3	+	8	1061	c.904C>T	c.(904-906)Cac>Tac	p.H302Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.H359Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.H289Y|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	302	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTCCATGTATCACTTGAGGTC	0.413000													14	60					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480751	57480751	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57480751C>T	ENST00000371236.2	-	12	1512	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DAB1_ENST00000439789.2_Missense_Mutation_p.D331N|DAB1_ENST00000371231.1_Missense_Mutation_p.D450N|DAB1_ENST00000414851.2_Missense_Mutation_p.D399N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.D415N|DAB1_ENST00000371234.4_Missense_Mutation_p.D417N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	450					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCTGGAAATCCTTAAACGTT	0.592000													8	67					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705685	101705685	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:101705685C>T	ENST00000305352.6	+	2	1520	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	382					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AACTCTTCTTCCTAGAACTGG	0.532000													6	38					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121550	50121550	+	Silent	SNP	G	G	A	rs150055684		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:50121550G>A	ENST00000374160.3	-	1	727	c.651C>T	c.(649-651)gcC>gcT	p.A217A	LRRC18_ENST00000298124.3_Silent_p.A217A|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	217						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGTTGTCCCGGGCGTTTTGGC	0.493000													25	69					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653286	110653286	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:110653286C>T	ENST00000338081.3	-	2	755	c.584G>A	c.(583-585)gGa>gAa	p.G195E	DCX_ENST00000356915.2_Missense_Mutation_p.G114E|DCX_ENST00000356220.3_Missense_Mutation_p.G114E|DCX_ENST00000488120.1_Missense_Mutation_p.G114E|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.G114E	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	195	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATCCATGCTTCCGATCTTCCT	0.498000													25	44					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140547	203140547	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:203140547G>A	ENST00000255416.4	-	5	814	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	253	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTGGCCTCCAGGTCTTCCACG	0.627000													12	51					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359062	66359062	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66359062G>A	ENST00000333861.3	-	1	1492	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	475										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAATGGCTTTGGGATCCAGTT	0.478000													24	145					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82400778	82400778	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:82400778C>G	ENST00000282268.3	+	2	215	c.40C>G	c.(40-42)Ccc>Gcc	p.P14A	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.P14A|XRCC4_ENST00000511817.1_Missense_Mutation_p.P14A|XRCC4_ENST00000396027.4_Missense_Mutation_p.P14A	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	14					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGTTTCTGAACCCAGTATAAC	0.343000								Non-homologous end-joining					11	69					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:28544283C>T	ENST00000401766.2	-	5	1250	c.738G>A	c.(736-738)caG>caA	p.Q246Q	SLC6A4_ENST00000261707.3_Silent_p.Q246Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587000													23	98					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962101	39962101	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:39962101C>T	ENST00000599117.1	+	20	2149	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	SUPT5H_ENST00000402194.2_Silent_p.I590I|SUPT5H_ENST00000359191.6_Silent_p.I590I|SUPT5H_ENST00000598725.1_Silent_p.I594I|SUPT5H_ENST00000432763.2_Silent_p.I594I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	594	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAACAACATCCATGTGAAAG	0.502000													24	87					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289109	35289109	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:35289109C>T	ENST00000316637.5	+	11	1823	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	DEF6_ENST00000542066.1_Silent_p.S351S	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	606						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCAGAAGTCCCTCAATGGTG	0.592000													22	87					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322324	150322324	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:150322324C>T	ENST00000533735.1	-	0	552					NR_024045.1																						CACCCTGCTTCCTTTCCTGGC	0.507000													4	15					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185390337	185390337	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:185390337G>A	ENST00000382199.2	-	10	1287	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.P404S|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.P341S|IGF2BP2_ENST00000346192.3_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	398					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACAGTGAAGGGGTGGTAGGGG	0.592000													5	34					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169143005	169143005	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169143005G>A	ENST00000393743.3	-	36	5143	c.4852C>T	c.(4852-4854)Cgc>Tgc	p.R1618C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1618							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCCTGAGAGCGATTGACACCG	0.363000													6	33					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72108278	72108278	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:72108278G>A	ENST00000540303.2	+	3	219	c.187G>A	c.(187-189)Gga>Aga	p.G63R	HPR_ENST00000356967.5_Missense_Mutation_p.G63R|HPR_ENST00000561690.1_Missense_Mutation_p.G63R|HPR_ENST00000228226.8_Missense_Mutation_p.G100R	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	63	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCGCACAGAAGGAGATGGTAA	0.502000													17	39					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974281	35974281	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:35974281G>A	ENST00000297866.5	+	8	1444	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	460										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTGATCCTGAAAAGGGCAA	0.373000													8	11					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25275005	25275005	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:25275005C>T	ENST00000218548.6	+	13	2177	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	ATP12A_ENST00000381946.3_Missense_Mutation_p.P609L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	609					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGATCGATCCCCCTCGGTCC	0.488000													17	74					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997456	115997456	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115997456G>A	ENST00000264363.2	-	2	1415	c.737C>T	c.(736-738)tCc>tTc	p.S246F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	246	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCTAGACAAGGATGACAGGGA	0.428000													19	79					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658765	97658765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:97658765C>T	ENST00000370192.3	-	20	2582	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	828					'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)	CAGTAGTCTTCGATCACAGTG	0.438000													5	24					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221265	161221265	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:161221265G>A	ENST00000327928.4	+	4	969	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	323	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCACTGGGAAGAAGGGCT	0.567000													6	20					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99768777	99768777	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:99768777G>A	ENST00000394132.2	-	5	958	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TTC23_ENST00000558613.1_Silent_p.L47L|TTC23_ENST00000394136.1_Silent_p.L47L|TTC23_ENST00000262074.4_Silent_p.L47L|TTC23_ENST00000558663.1_Silent_p.L47L|TTC23_ENST00000394129.2_Silent_p.L47L|TTC23_ENST00000394130.1_Silent_p.L47L|TTC23_ENST00000394135.3_Silent_p.L47L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	47							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCTCTTCACAGAGGTGGAGTT	0.408000													11	20					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208028	140208028	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140208028C>T	ENST00000529310.1	+	1	466	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.H118Y|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTTTCCATGTGGACGT	0.572000													44	229					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893872	32893872	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:32893872G>A	ENST00000330048.5	-	0	1385					NR_003083.2																						CGATGACAGGGGACTGGCGGT	0.617000													18	112					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490454	149490454	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149490454G>A	ENST00000378016.2	+	0	5930							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGTGTCGGGGAACGCTGG	0.677000													5	46					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239039092	239039092	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:239039092C>T	ENST00000343063.3	+	9	2000	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	ESPNL_ENST00000409169.1_Silent_p.A535A|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Silent_p.A211A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	579										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGCGGAGGCCTCAGAGGTGG	0.697000													9	10					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411865	43411865	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43411865G>A	ENST00000187910.2	-	4	913	c.848C>T	c.(847-849)cCg>cTg	p.P283L	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.P283L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTTTACCCTCGGACTGACCGG	0.488000													65	285					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041469	42041469	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:42041469C>T	ENST00000219905.7	+	17	5845	c.5664C>T	c.(5662-5664)tcC>tcT	p.S1888S	MGA_ENST00000545763.1_Silent_p.S1679S|MGA_ENST00000566586.1_Silent_p.S1679S|MGA_ENST00000570161.1_Silent_p.S1888S|MGA_ENST00000389936.4_Silent_p.S1849S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1849						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CATTGCTTTCCTCTGGAGCTA	0.453000													9	32					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241233	163241233	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:163241233C>T	ENST00000332142.5	-	13	3026	c.2927G>A	c.(2926-2928)aGa>aAa	p.R976K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	976					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATGTGCATTCTTCCTGAGGT	0.428000													21	51					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124201686	124201686	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:124201686C>T	ENST00000360013.3	+	28	4344	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	KALRN_ENST00000460856.1_Missense_Mutation_p.S1397F|KALRN_ENST00000240874.3_Missense_Mutation_p.S1406F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1406	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGCCAACTCCATCTCTTCC	0.512000													22	123					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445225	150445225	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:150445225C>T	ENST00000401000.4	+	10	3788	c.3723C>T	c.(3721-3723)ttC>ttT	p.F1241F	RPRD2_ENST00000369068.4_Silent_p.F1267F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1267	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATTCCTTTCCCTACCCCAC	0.612000													20	122					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329490	33329490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:33329490C>T	ENST00000374796.2	-	12	7140	c.4570G>A	c.(4570-4572)Gac>Aac	p.D1524N	NCOA6_ENST00000359003.2_Missense_Mutation_p.D1524N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1524					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTTTGAGGTCCTCCCCAGAA	0.443000													9	56					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108409790	108409790	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108409790C>T	ENST00000265843.4	-	3	514	c.404G>A	c.(403-405)gGa>gAa	p.G135E	EXPH5_ENST00000525344.1_Missense_Mutation_p.G128E|EXPH5_ENST00000428840.1_Missense_Mutation_p.G59E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	135					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTCTCCTTTCCAGATTTCCT	0.438000													20	71					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419972	41419972	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41419972G>A	ENST00000373198.3	-	3	584	c.349C>T	c.(349-351)Cca>Tca	p.P117S	PTPRT_ENST00000356100.2_Missense_Mutation_p.P117S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P117S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P117S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P117S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P117S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P117S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	117	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AAGGCCCCTGGGCTGGACCTG	0.592000													17	68					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166261	15166261	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15166261G>A	ENST00000427043.3	+	6	849	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CASP14_ENST00000221740.1_Missense_Mutation_p.D181N	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	181					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTACCGACATGATCAGAAAGG	0.527000													14	88					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157189	96157189	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:96157189G>A	ENST00000340722.7	+	2	330	c.279G>A	c.(277-279)ggG>ggA	p.G93G	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	93			G -> R (in dbSNP:rs1064017).							cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTACCCCGGGAGGAAGTACC	0.612000													18	89					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65240022	65240022	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65240022C>T	ENST00000389722.3	-	24	5147	c.5094G>A	c.(5092-5094)gaG>gaA	p.E1698E	SPTB_ENST00000556626.1_Silent_p.E1698E|SPTB_ENST00000542895.1_Silent_p.E1698E|SPTB_ENST00000389720.3_Silent_p.E1698E|SPTB_ENST00000389721.5_Silent_p.E1698E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1698					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCGTCGGTCTCCCGCTTGA	0.572000													14	76					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890586	2890586	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:2890586G>A	ENST00000380698.4	-	7	1031	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	314					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTTGTGCACGAACTTGGACA	0.537000													27	104					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389043	4389043	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4389043G>A	ENST00000408920.2	-	1	573	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAAATATGATAGGGAAAA	0.358000													8	21					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58005429	58005429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58005429C>T	ENST00000424930.2	+	5	1736	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	ZNF419_ENST00000354197.4_Nonsense_Mutation_p.R434*|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R456*|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.R502*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R489*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R490*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R470*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R470*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTTTAAACATCGAAGGATTCA	0.428000													16	77					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99520598	99520598	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:99520598G>A	ENST00000376460.1	-	28	3057	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	DOCK9_ENST00000448493.2_Missense_Mutation_p.H1005Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.H994Y|DOCK9_ENST00000442173.1_Missense_Mutation_p.H993Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	994					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGATGATAGGATGCA	0.383000													5	15					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829906	160829906	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:160829906C>T	ENST00000392145.1	+	4	837	c.810C>T	c.(808-810)atC>atT	p.I270I	SLC22A3_ENST00000275300.2_Silent_p.I270I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	270						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGCAAGGAATCCAGTTAGCCA	0.408000													17	47					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002865	122002865	+	Silent	SNP	C	C	T	rs150869744	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:122002865C>T	ENST00000498619.1	+	7	2532	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CASR_ENST00000296154.5_Silent_p.F688F|CASR_ENST00000490131.1_Silent_p.F688F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	688					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCATCAGCTTCGTGCTCTGCA	0.612000													29	80					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52553575	52553575	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:52553575C>T	ENST00000321725.6	+	50	5306	c.5230C>T	c.(5230-5232)Ctg>Ttg	p.L1744L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1744	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGCGGCCTCCTGAAGGTACT	0.567000													9	84					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74071156	74071156	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:74071156C>T	ENST00000329003.3	+	1	282	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	64					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACCTGTTCATCCTTAACCTGG	0.647000													15	94					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2431606	2431606	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2431606C>T	ENST00000325327.3	-	11	1823	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	LMNB2_ENST00000582871.1_Silent_p.E567E|LMNB2_ENST00000475819.1_Intron			Q03252	LMNB2_HUMAN	lamin B2	567	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCCATTCTCATTCTCAC	0.622000													39	225					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351161	47351161	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47351161G>A	ENST00000505841.1	-	0	461					NR_002788.2																						ACATCATGGTGATGAATATTT	0.483000													4	34					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71096951	71096951	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71096951G>A	ENST00000317987.5	+	2	152	c.40G>A	c.(40-42)Gtg>Atg	p.V14M		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	14						extracellular region											CATCTTGGCAGTGGCTGTTGG	0.353000													12	55					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006750	34006750	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:34006750C>T	ENST00000373381.4	-	59	9613	c.9437G>A	c.(9436-9438)gGa>gAa	p.G3146E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3118	Sushi 25.					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)				GGGCTTGGTTCCATTCCATGT	0.488000													31	142					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62929322	62929322	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:62929322C>T	ENST00000393630.3	+	14	2124	c.1733C>T	c.(1732-1734)aCt>aTt	p.T578I	MON2_ENST00000280379.6_Missense_Mutation_p.T578I|MON2_ENST00000546600.1_Missense_Mutation_p.T578I|MON2_ENST00000552738.1_Missense_Mutation_p.T578I|MON2_ENST00000552115.1_Missense_Mutation_p.T578I|MON2_ENST00000393632.2_Missense_Mutation_p.T578I|MON2_ENST00000393629.2_Missense_Mutation_p.T578I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	578					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.T578S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GAAGCTGCCACTGAGAATATT	0.338000													14	60					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377153	138377153	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138377153C>T	ENST00000356818.2	+	4	1346	c.797C>T	c.(796-798)tCc>tTc	p.S266F	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S266F|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S266F|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S266F|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S266F	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	266						nucleolus	protein binding										CTCTTGAAATCCCACCAAGAG	0.512000													40	179					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442315	138442315	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:138442315G>A	ENST00000344876.4	-	4	3662	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	PCDH18_ENST00000511115.1_Silent_p.I272I|PCDH18_ENST00000507846.1_Silent_p.I871I|PCDH18_ENST00000510305.1_Silent_p.I303I|PCDH18_ENST00000412923.2_Silent_p.I1091I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1092	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATTTTCAGGGATCTCCTCCA	0.483000													3	33					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381639	35381639	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:35381639C>T	ENST00000378495.3	+	19	2553	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	UNC13B_ENST00000396787.1_Silent_p.Y789Y|UNC13B_ENST00000378496.4_Silent_p.Y777Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	777					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAAGGTGTACTTTGATGAGA	0.512000													34	187					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872321	51872321	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:51872321C>T	ENST00000371497.5	+	2	3211	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A772V|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A772V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	775					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAGAAAGCCGAGTCCTCG	0.557000													25	103					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378112	31378112	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:31378112T>A	ENST00000297142.3	-	2	1093	c.771A>T	c.(769-771)gaA>gaT	p.E257D		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	257					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTAAGGGACCTTCAAACTGAG	0.408000													17	40					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770838	35770838	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:35770838C>T	ENST00000187397.4	+	15	1725	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	ARPP21_ENST00000337271.5_Silent_p.S369S|ARPP21_ENST00000458225.1_Silent_p.S389S|ARPP21_ENST00000417925.1_Silent_p.S389S|ARPP21_ENST00000444190.1_Silent_p.S369S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	423	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATCGCTGTCCCGCACCCATC	0.557000													13	72					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521190	69521190	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:69521190G>A	ENST00000341516.5	-	9	2360	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	DCAF5_ENST00000556847.1_Missense_Mutation_p.P656L|DCAF5_ENST00000557386.1_Missense_Mutation_p.P737L|DCAF5_ENST00000554215.1_Missense_Mutation_p.P656L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	738						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGGAGTTCTAGGAGTCTCTTC	0.547000													16	97					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529985	140529985	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140529985G>A	ENST00000231136.1	+	1	147	c.147G>A	c.(145-147)aaG>aaA	p.K49K	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGACAAAGGACCTGGGAC	0.502000													18	106					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57642615G>A	ENST00000254181.4	+	4	3026	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_ENST00000598197.1_Missense_Mutation_p.D858N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000													8	29					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141805639	141805639	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141805639G>A	ENST00000475668.2	+	71	8264	c.8210G>A	c.(8209-8211)aGa>aAa	p.R2737K	MGAM_ENST00000549489.2_Missense_Mutation_p.R1841K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1841					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGACTGACAGAAACATCAGC	0.368000													7	112					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690858	2690858	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:2690858C>T	ENST00000399655.1	+	14	2263	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	CACNA1C_ENST00000327702.7_Silent_p.S666S|CACNA1C_ENST00000399595.1_Silent_p.S666S|CACNA1C_ENST00000399644.1_Silent_p.S666S|CACNA1C_ENST00000399621.1_Silent_p.S666S|CACNA1C_ENST00000399606.1_Silent_p.S666S|CACNA1C_ENST00000399637.1_Silent_p.S666S|CACNA1C_ENST00000402845.3_Silent_p.S666S|CACNA1C_ENST00000344100.3_Silent_p.S666S|CACNA1C_ENST00000347598.4_Silent_p.S666S|CACNA1C_ENST00000399634.1_Silent_p.S666S|CACNA1C_ENST00000480911.1_Silent_p.S666S|CACNA1C_ENST00000399638.1_Silent_p.S666S|CACNA1C_ENST00000399603.1_Silent_p.S666S|CACNA1C_ENST00000406454.3_Silent_p.S666S|CACNA1C_ENST00000335762.5_Silent_p.S691S|CACNA1C_ENST00000399601.1_Silent_p.S666S|CACNA1C_ENST00000399649.1_Silent_p.S666S|CACNA1C_ENST00000399597.1_Silent_p.S666S|CACNA1C_ENST00000399641.1_Silent_p.S666S|CACNA1C_ENST00000399591.1_Silent_p.S666S|CACNA1C_ENST00000399629.1_Silent_p.S666S|CACNA1C_ENST00000399617.1_Silent_p.S666S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	666					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcttctccctcctGGGGA	0.537000													6	28					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549278	52549278	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:52549278G>A	ENST00000242839.4	-	2	234	c.78C>T	c.(76-78)acC>acT	p.T26T	ATP7B_ENST00000448424.2_Silent_p.T26T|ATP7B_ENST00000542656.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.T26T|ATP7B_ENST00000418097.2_Silent_p.T26T|ATP7B_ENST00000400370.3_Silent_p.T26T|ATP7B_ENST00000344297.5_Silent_p.T26T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	26					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCAGGCACGGGTAGGCAAAG	0.428000									Wilson disease				9	47					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68395565	68395565	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:68395565C>T	ENST00000219334.5	-	8	2410	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	SMPD3_ENST00000563226.1_Missense_Mutation_p.G595S|SMPD3_ENST00000568373.1_Missense_Mutation_p.G586S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	603					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ATGCGCCGGCCGTTGCCCTTC	0.657000													19	62					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393562	154393562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:154393562C>T	ENST00000435029.4	+	1	303	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	48	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGATAAATCCTTCACCTAC	0.488000													11	59					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87097661	87097661	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:87097661A>G	ENST00000441037.2	+	20	2844	c.2749A>G	c.(2749-2751)Aaa>Gaa	p.K917E	AGBL1_ENST00000389298.3_Missense_Mutation_p.K648E|AGBL1_ENST00000421325.2_Missense_Mutation_p.K917E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	917					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCGTGGAGAAATCTCGAGC	0.507000													2	4					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779021	137779021	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:137779021C>T	ENST00000350339.2	+	7	602	c.588C>T	c.(586-588)tcC>tcT	p.S196S	FCN2_ENST00000291744.6_Silent_p.S234S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	234	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGGAGATTCCCTGACGTTCC	0.478000													21	120					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44125510	44125510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:44125510G>A	ENST00000416848.2	-	8	2265	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	PUS7L_ENST00000431332.3_Nonsense_Mutation_p.Q280*|PUS7L_ENST00000551923.1_Nonsense_Mutation_p.Q593*|PUS7L_ENST00000344862.5_Nonsense_Mutation_p.Q593*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	593	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAATTTACCTGATGTATTGCA	0.313000													8	17					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814402	64814402	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:64814402G>C	ENST00000396679.1	-	11	924	c.710C>G	c.(709-711)tCc>tGc	p.S237C	CENPK_ENST00000510693.1_Missense_Mutation_p.S174C|CENPK_ENST00000514814.1_Missense_Mutation_p.S237C|CENPK_ENST00000508421.1_Missense_Mutation_p.S207C|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.S237C	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	237					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TGGCCAAAAGGAATCACTAAT	0.348000													13	51					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080470	29080470	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29080470G>A	ENST00000377169.1	+	1	803	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCACCATCAGGAAATTCTCAA	0.428000													20	51					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261005	6261005	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6261005G>A	ENST00000379936.2	+	3	371	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CNGA4_ENST00000533426.1_Missense_Mutation_p.V46M	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	86					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACATGGTGGTGCGCTTCCA	0.542000													4	31					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36675228	36675228	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:36675228C>T	ENST00000399881.3	+	10	1093	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	352	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGAGGAATTTCCTCCGCGACA	0.443000													14	79					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158549611C>T	ENST00000368150.1	-	1	78	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000													10	75					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263937	156263937	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:156263937C>T	ENST00000362007.1	-	4	696	c.670G>A	c.(670-672)Gga>Aga	p.G224R	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.G138R	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	224					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGAGAGGCTCCAATCAGGGCC	0.632000													18	70					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113816737	113816737	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:113816737G>A	ENST00000260191.2	+	9	1461	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	HTR3B_ENST00000537778.1_Missense_Mutation_p.E391K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	402	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGACCAACAGGAGGCAGAGTG	0.557000													14	52					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576790	33576790	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:33576790G>A	ENST00000504830.1	-	19	3676	c.3341C>T	c.(3340-3342)aCc>aTc	p.T1114I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1029I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1114	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCTCCGAGGTAGGACCAGT	0.493000										HNSCC(64;0.19)			17	65					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140577	143140577	+	Missense_Mutation	SNP	C	C	T	rs144050978		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143140577C>T	ENST00000332690.1	+	1	32	c.32C>T	c.(31-33)tCg>tTg	p.S11L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	11					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.S11L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTAGGATCTTCGGTGACTGAC	0.498000													31	186					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040396	16040396	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16040396C>T	ENST00000326742.7	-	2	215	c.214G>A	c.(214-216)Gag>Aag	p.E72K	CYP4F11_ENST00000248041.7_Missense_Mutation_p.E72K|CYP4F11_ENST00000402119.3_Missense_Mutation_p.E72K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	72					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTCATGCCCTCTTCCGTGGGA	0.522000													30	121					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152189	123152189	+	Missense_Mutation	SNP	G	G	A	rs140652989		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123152189G>A	ENST00000466202.1	-	2	782	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IQUB_ENST00000324698.6_Missense_Mutation_p.S69L|IQUB_ENST00000434450.1_Missense_Mutation_p.S69L|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	69										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCCAGGCTTGAAAAGCTTTG	0.413000													21	128					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100587028	100587028	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:100587028G>A	ENST00000287482.5	-	5	529	c.389C>T	c.(388-390)cCt>cTt	p.P130L	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	130					centriole replication	centriole		p.P130L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATGCTTAAAAGGATTTGTCTC	0.348000													9	57					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735319	52735319	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:52735319C>T	ENST00000306051.2	+	1	889	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	PTGDR_ENST00000553372.1_Missense_Mutation_p.H263Y	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	263						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGAGCTGGATCACCTCCTGCT	0.687000													51	200					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951237	62951237	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62951237C>T	ENST00000403374.2	-	6	688	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.G295S|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	295					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCCTTTAAGCCCTCTTCTGGT	0.478000													19	88					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8995651C>T	ENST00000397910.4	-	63	41540	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_ENST00000380951.5_Silent_p.S420S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13781				Missing (in Ref. 3; AAK74120).	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						GGCCAAATATCGAGGCTGGAG	0.463000													6	32					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68617562	68617562	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:68617562C>T	ENST00000423218.2	-	18	2324	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	ITGA11_ENST00000315757.7_Silent_p.V743V			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	743					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCACTGGCTTCACGTAGTCAG	0.582000													18	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583614	179583614	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179583614G>T	ENST00000589042.1	-	84	24537	c.24313C>A	c.(24313-24315)Cct>Act	p.P8105T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6861T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P7788T|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7788	Ig-like 63.						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)			TTGAAAGGAGGGGTGCCTCTG	0.473000													8	18					1.76689e-08	1.78352e-08	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468489	56468489	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56468489C>T	ENST00000312153.1	+	1	626	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTCATCTGCCCCGCAGTGCTC	0.527000													14	118					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447299	99447299	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99447299C>T	ENST00000354829.2	+	7	755	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.S80F|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P218S|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P218S|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	218			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTTTTTGGATCCCTTTTTACT	0.303000													4	30					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671812	125671812	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:125671812G>A	ENST00000431078.1	+	24	4232	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1290					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCAGAAATGAAATTGACTT	0.418000													5	25					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911970	158911970	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158911970G>A	ENST00000368140.1	+	5	1028	c.783G>A	c.(781-783)agG>agA	p.R261R	PYHIN1_ENST00000392252.3_Silent_p.R252R|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Silent_p.R261R|PYHIN1_ENST00000368138.3_Silent_p.R252R	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	261	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTTGAAGAGGAAATTCATTA	0.363000													7	25					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66082996	66082996	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:66082996C>T	ENST00000360689.5	+	5	2114	c.387C>T	c.(385-387)ttC>ttT	p.F129F	FUT8_ENST00000394585.1_Silent_p.F129F|FUT8_ENST00000394586.2_Silent_p.F129F|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	129					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCTGGTTTTTCCTACAGAGTG	0.378000													16	44					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99408034	99408034	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:99408034C>T	ENST00000305798.3	-	3	536	c.132_splice	c.e3-1	p.G45_splice	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	45						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGACAGAACTCCCTGGGAGCA	0.483000													14	123					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40747137	40747137	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:40747137G>A	ENST00000373198.3	-	22	3189	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	PTPRT_ENST00000356100.2_Missense_Mutation_p.P972L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P963L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P962L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P966L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P953L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P953L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	963	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCCTGCATCGGACCTGCCAA	0.532000													19	72					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140469207	140469207	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140469207C>T	ENST00000277540.2	-	4	621	c.464G>A	c.(463-465)gGa>gAa	p.G155E	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CCCTTACCTTCCAGTTTTCCC	0.567000													49	263					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208142	100208142	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:100208142C>T	ENST00000209668.2	-	3	237	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	42					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTACAGCCACCATCTACAGA	0.453000													13	91					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088003	32088003	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:32088003G>A	ENST00000438447.1	+	20	4837	c.4449G>A	c.(4447-4449)ccG>ccA	p.P1483P	PDZD2_ENST00000282493.3_Silent_p.P1483P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1483					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P1483P(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCCTCCCCGAGGAGGGCCT	0.642000													5	23					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562058	32562058	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:32562058C>T	ENST00000345122.3	+	2	2498	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P728L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P728L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P728L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	728					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCAATGTCCTTTTGTAGAT	0.383000													17	65					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186685	213186685	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:213186685A>G	ENST00000366962.3	-	2	289	c.135T>C	c.(133-135)tgT>tgC	p.C45C	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	45										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGTTCCAGCAACACCTTTGCA	0.448000													31	143					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232463	96232463	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96232463G>A	ENST00000437043.3	+	9	2110	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Missense_Mutation_p.D422N|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	467					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TATGCTCAAGGATTTTCTGGG	0.328000													11	51					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559180	80559180	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:80559180C>T	ENST00000335255.5	+	9	1962	c.1786_splice	c.e9-1	p.A596_splice	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	596					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCATTTCAGCCGCGGCGAGTC	0.632000													14	63					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805901	58805901	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58805901C>T	ENST00000196548.5	+	4	858	c.727C>T	c.(727-729)Cca>Tca	p.P243S	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TCAGGCCATTCCAATTACGGA	0.493000													5	51					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140790067	140790067	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140790067C>T	ENST00000520790.1	+	1	2298	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTAATTTCCTAAAATGCA	0.448000													14	63					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103338393G>A	ENST00000428762.1	-	10	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_ENST00000343529.5_Silent_p.I350I|RELN_ENST00000424685.2_Silent_p.I350I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000													14	105					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217651	150217651	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150217651G>A	ENST00000313543.4	+	2	746	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	197							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTGCAACGAAGGGGCTTA	0.443000													9	86					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52317558	52317558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:52317558C>T	ENST00000371068.5	+	4	749	c.646C>T	c.(646-648)Cga>Tga	p.R216*	EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R197*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R125*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	216						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CACTGAACTCCGAAAACAGCC	0.378000													15	119					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225965	9225965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9225965G>A	ENST00000293614.1	-	1	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	OR7G1_ENST00000541538.1_Nonsense_Mutation_p.Q159*			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATCAGACTCTGAACCAGGGCA	0.478000													17	78					0	0	1	0	0
ARL14EP	120534	broad.mit.edu	37	11	30352784	30352784	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:30352784G>A	ENST00000282032.3	+	2	504	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		TGACTTAGATGATGCCACTTT	0.358000													19	86					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12029959	12029959	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:12029959C>T	ENST00000396505.2	-	2	409	c.171G>A	c.(169-171)ctG>ctA	p.L57L	DKK3_ENST00000450094.2_Silent_p.L57L|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000525493.1_Silent_p.L57L|DKK3_ENST00000326932.4_Silent_p.L57L	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	57					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGTCCTCCATCAGTTCCTCAA	0.672000													7	28					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62256091	62256091	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:62256091C>T	ENST00000261517.5	-	32	3347	c.3274G>A	c.(3274-3276)Gct>Act	p.A1092T	VPS13C_ENST00000395898.3_Missense_Mutation_p.A1049T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1092T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1049T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1092					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACACAGAAAGCATTCAACTTG	0.358000													14	38					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250917	140250917	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140250917G>A	ENST00000398640.2	+	1	2229	c.2229G>A	c.(2227-2229)gcG>gcA	p.A743A	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCCGCGCGGTGGGGAGCT	0.677000													14	53					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231101813	231101813	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:231101813C>T	ENST00000392045.3	+	2	189	c.75C>T	c.(73-75)atC>atT	p.I25I	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Silent_p.I25I|SP140_ENST00000343805.6_Silent_p.I25I|SP140_ENST00000417495.3_Silent_p.I25I|SP140_ENST00000486687.2_Silent_p.I25I|SP140_ENST00000420434.3_Silent_p.I25I|SP140_ENST00000350136.5_Silent_p.I5I	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	25	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCGCAGAGATCCAGAACGTAG	0.448000													8	24					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36385146	36385146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:36385146C>T	ENST00000373204.4	+	19	2725	c.2512C>T	c.(2512-2514)Cag>Tag	p.Q838*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q763*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCGGGACCCCCAGGCCCTGGC	0.542000													8	25					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446040	169446040	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:169446040C>T	ENST00000256935.8	+	33	3389	c.3309C>T	c.(3307-3309)ctC>ctT	p.L1103L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L164L|DOCK2_ENST00000520908.1_Silent_p.L595L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1103	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCTGAGCTCCGGAAAGCCA	0.443000													45	178					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.9_Silent_p.T165T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000													11	49					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150613	247150613	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247150613G>A	ENST00000339986.7	-	4	1351	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	402					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCAGTATGAATTCTCTTA	0.388000													13	38					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307579	113307579	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113307579G>A	ENST00000389385.4	+	9	1123	c.626G>A	c.(625-627)aGg>aAg	p.R209K	RPH3A_ENST00000551052.1_Missense_Mutation_p.R205K|RPH3A_ENST00000548866.1_Missense_Mutation_p.R160K|RPH3A_ENST00000420983.2_Missense_Mutation_p.R209K|RPH3A_ENST00000543106.2_Missense_Mutation_p.R209K|RPH3A_ENST00000447659.2_Missense_Mutation_p.R160K|RPH3A_ENST00000415485.3_Missense_Mutation_p.R209K|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	209	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGTGAAGATAGGAGGGGCCCG	0.463000													27	114					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996664	48996664	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48996664G>A	ENST00000226432.4	+	5	723	c.540G>A	c.(538-540)aaG>aaA	p.K180K	CWH43_ENST00000513409.1_Silent_p.K153K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	180					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGAAGAAAAGAAGACTGGTG	0.438000													9	108					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14826998	14826998	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14826998G>A	ENST00000292530.6	+	9	766	c.675G>A	c.(673-675)agG>agA	p.R225R	ZNF333_ENST00000536363.1_Silent_p.R116R|ZNF333_ENST00000540689.2_Silent_p.R225R	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	225	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTACTCAGAGGAGCCTGTATA	0.473000													27	111					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145239319	145239319	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:145239319G>A	ENST00000377976.1	-	3	723	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	242										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATCTGGCAAGGCTGTAGGCCA	0.517000													29	79					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881207	142881207	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142881207C>T	ENST00000446620.1	+	1	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	232					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CCCTGCTGATCCTCTCTCTCA	0.517000													29	134					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769536	91769536	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:91769536C>T	ENST00000394232.1	+	2	513	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.P15S|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	15					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGCTATGCTCCCAGTGATGG	0.517000													22	57					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690916	49690916	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:49690916C>T	ENST00000296452.4	+	5	4041	c.3927C>T	c.(3925-3927)acC>acT	p.T1309T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1309					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCCCCTTACCCCTGGTACCA	0.557000													33	143					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123264837C>T	ENST00000451558.1	+	10	1187	c.666C>T	c.(664-666)caC>caT	p.H222H	ASB15_ENST00000540573.1_Silent_p.H222H|ASB15_ENST00000434204.1_Silent_p.H222H|ASB15_ENST00000451215.1_Silent_p.H222H|ASB15_ENST00000275699.3_Silent_p.H222H|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	39					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766843	77766843	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:77766843G>A	ENST00000521891.2	+	10	8134	c.7686G>A	c.(7684-7686)caG>caA	p.Q2562Q	ZFHX4_ENST00000050961.6_Silent_p.Q2517Q|ZFHX4_ENST00000455469.2_Silent_p.Q2517Q|ZFHX4_ENST00000518282.1_Silent_p.Q2536Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2517						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q2546H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCCCTCAGGCCAGTTCCT	0.498000										HNSCC(33;0.089)			17	69					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244519	171244519	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:171244519C>T	ENST00000354841.4	+	3	487	c.356C>T	c.(355-357)tCt>tTt	p.S119F	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.S56F|FMO1_ENST00000367750.3_Missense_Mutation_p.S119F			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	119					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTCAGATTCTGCTGTCTCT	0.428000													12	60					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449898	147449898	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:147449898G>A	ENST00000359874.3	+	3	167	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	SPINK5_ENST00000398454.1_Missense_Mutation_p.E32K|SPINK5_ENST00000256084.7_Missense_Mutation_p.E32K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	32	Kazal-like 1; atypical.				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)			AATGTGCCATGAATTTCAGGC	0.294000													8	28					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401567	401567	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:401567G>A	ENST00000380956.4	+	7	1015	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	297					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTACCCAGAGGACAATGGCCA	0.607000			T	IGH@	MM								5	56					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626057	154626057	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:154626057C>T	ENST00000260010.6	+	1	3406	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	666	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGGAGAACTTCAATCCCCCCT	0.468000													6	61					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598670	28598670	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28598670C>T	ENST00000434452.1	-	8	1193	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	DSC3_ENST00000360428.4_Missense_Mutation_p.D347N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	347	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.D347Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCATTTGAATCTGTTACTGTT	0.333000													5	55					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726695	46726695	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:46726695C>T	ENST00000311764.2	+	5	1675	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCAGGGCTCCCTGCGGAAC	0.672000													24	91					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136677832	136677832	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136677832C>T	ENST00000354570.3	-	16	2423	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	MAP7_ENST00000454590.1_Silent_p.E693E|MAP7_ENST00000438100.2_Silent_p.E656E|MAP7_ENST00000544465.1_Silent_p.E656E|MAP7_ENST00000432797.2_Silent_p.E525E	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	671					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AAACTCACCTCTCCACTGTCA	0.418000													7	39					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237223	56237223	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56237223C>T	ENST00000312240.2	-	1	791	c.751G>A	c.(751-753)Ggt>Agt	p.G251S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAGTACCATAGAATATA	0.488000													3	29					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130604	117130604	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:117130604C>T	ENST00000310357.3	-	2	392	c.371G>A	c.(370-372)aGa>aAa	p.R124K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R124K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R124K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	124					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CACAGTTTCTCTGGAGCAGTT	0.448000													4	42					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	875447	875447	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:875447G>A	ENST00000312090.6	-	10	1718	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.S523F|MED16_ENST00000269814.4_Missense_Mutation_p.S523F|MED16_ENST00000589119.1_Missense_Mutation_p.S523F|MED16_ENST00000395808.3_Missense_Mutation_p.S523F			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	523					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCCGGGTGGAGAGGACCTG	0.652000													3	14					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464519	25464519	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:25464519C>T	ENST00000376351.3	+	1	529	c.170C>T	c.(169-171)tCc>tTc	p.S57F	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	57						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCTCGGACTCCTCGGCTCCC	0.697000													7	32					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4843021C>T	ENST00000322110.5	+	1	471	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTTTGATCGTTTTGTGGC	0.463000													26	107					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564406	39564406	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:39564406G>A	ENST00000265707.5	+	18	2045	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	ADAM18_ENST00000379866.1_Missense_Mutation_p.G643E|ADAM18_ENST00000541111.1_Missense_Mutation_p.G81E|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	667					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGATGATGGAAATTTTCAG	0.323000													8	63					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107696	55107696	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55107696C>T	ENST00000251372.3	+	7	1183	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	334	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCCGGGCCCCACGGTGGCC	0.627000													16	70					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219903680	219903680	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:219903680G>A	ENST00000341552.5	-	3	174	c.91C>T	c.(91-93)Cct>Tct	p.P31S	CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000453220.1_Missense_Mutation_p.P31S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P31S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	31						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGAAGAGGAATAAGGGGG	0.443000													33	90					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164198	150164198	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150164198G>A	ENST00000307271.3	+	2	986	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	138						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGAAGGATGATTTGGGGGA	0.448000													8	63					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79300958	79300958	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:79300958C>T	ENST00000264895.6	+	27	3811	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	FRAS1_ENST00000325942.6_Missense_Mutation_p.S1124F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1123					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGGATTTTTCCCTCCTGAAT	0.448000													3	26					0	0	1	0	0
SEC1P	653677	broad.mit.edu	37	19	49183689	49183689	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49183689C>T	ENST00000430145.2	+	0	776					NR_004401.2																						CCGCCACATCCCGGGGCGCTG	0.652000													13	67					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69136817	69136817	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:69136817G>A	ENST00000288368.4	+	39	5008	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACACAGCGAAGAATTTGG	0.458000													8	53					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368968	22368968	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:22368968C>T	ENST00000332663.2	+	1	491	c.393C>T	c.(391-393)caC>caT	p.H131H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACCCCTCCACTATGCTACCA	0.507000													10	152					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76384833	76384833	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:76384833C>A	ENST00000284142.6	-	3	831	c.692G>T	c.(691-693)aGt>aTt	p.S231I		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	231					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TCTTCCTAAACTCAGCTGTGT	0.269000													4	19					0.00909568	0.00912226	1	1	0
WNK1	65125	broad.mit.edu	37	12	1005395	1005395	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:1005395C>T	ENST00000537687.1	+	24	7165	c.6522C>T	c.(6520-6522)atC>atT	p.I2174I	WNK1_ENST00000535572.1_Silent_p.I1666I|WNK1_ENST00000340908.4_Silent_p.I1507I|WNK1_ENST00000315939.6_Silent_p.I1914I|WNK1_ENST00000530271.2_Silent_p.I2412I	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1914					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCATAACCATCCCTGGTATCT	0.498000													11	52					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11348663	11348663	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11348663G>A	ENST00000227756.4	-	9	1893	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGATGTACATGATGGGGACAT	0.512000													20	86					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553474	113553474	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113553474C>T	ENST00000546530.1	-	11	1254	c.969G>A	c.(967-969)ctG>ctA	p.L323L	RASAL1_ENST00000548055.1_Silent_p.L323L|RASAL1_ENST00000446861.3_Silent_p.L323L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Silent_p.L323L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	323	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGAGATAGTCCAGAAAGCGCC	0.637000													9	27					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721378	198721378	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:198721378G>A	ENST00000367376.2	+	30	3373	c.3201_splice	c.e30-1	p.E1068_splice	PTPRC_ENST00000352140.3_Splice_Site_p.E1020_splice|PTPRC_ENST00000594404.1_Splice_Site_p.E907_splice|PTPRC_ENST00000442510.2_Splice_Site_p.E1070_splice|PTPRC_ENST00000348564.6_Splice_Site_p.E909_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1068	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTTATCTAGGAAATCTGTGC	0.383000													6	25					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33427661	33427661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:33427661C>T	ENST00000242067.6	+	19	2541	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	BBS9_ENST00000354265.4_Missense_Mutation_p.R639W|BBS9_ENST00000355070.2_Missense_Mutation_p.R669W|BBS9_ENST00000396127.2_Missense_Mutation_p.R639W|BBS9_ENST00000350941.3_Missense_Mutation_p.R634W	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTACAATTTCGGGCCATTCA	0.403000									Bardet-Biedl syndrome				40	146					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967944	106967944	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:106967944T>C	ENST00000369066.3	+	2	2124	c.1637T>C	c.(1636-1638)cTc>cCc	p.L546P		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	546							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCCAGAGTCCTCGTCCAGGTC	0.542000													11	46					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202101	21202101	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21202101G>T	ENST00000239347.3	-	1	103	c.64C>A	c.(64-66)Ctg>Atg	p.L22M		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	22					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCACAGCCCAGAGAGCAGATG	0.507000													9	64					0.0692343	0.0693556	1	1	0
GBP5	115362	broad.mit.edu	37	1	89730439	89730439	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:89730439C>T	ENST00000343435.5	-	8	1615	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	GBP5_ENST00000370459.3_Missense_Mutation_p.R360K|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	360						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AATGGCCTCCCTCTCACTGGT	0.478000													11	70					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925212	218925212	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:218925212G>A	ENST00000439871.1	-	0	1168					NR_002712.1																						CGTAGATGAGGGGATTGAGGT	0.527000													17	43					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608425	84608425	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:84608425G>A	ENST00000344803.2	+	4	3087	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGACCTTATAGAGACAGATTC	0.488000													34	158					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010423	161010423	+	Silent	SNP	G	G	A	rs138288820		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:161010423G>A	ENST00000368021.3	-	9	861	c.657C>T	c.(655-657)atC>atT	p.I219I	USF1_ENST00000368019.1_Silent_p.I191I|USF1_ENST00000435396.1_Silent_p.I160I|USF1_ENST00000368020.1_Silent_p.I219I	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	219	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGAGCTGCACGATCCAGTTGT	0.542000													6	57					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933372	127933372	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:127933372G>A	ENST00000451402.1	-	3	494	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Missense_Mutation_p.H55Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H55Y	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	55					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGTCCATGGATATCTCCA	0.378000													38	180					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750150	62750150	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62750150G>A	ENST00000400873.3	-	0	2207					NR_026899.1																						TGGCATCCAGGATAACCAGAA	0.378000													70	284					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11169017	11169017	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11169017C>T	ENST00000358026.2	+	32	4891	c.4607C>T	c.(4606-4608)cCc>cTc	p.P1536L	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P1470L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P1471L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P1504L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P1504L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P1473L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P1474L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P1474L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P1473L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1504	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCGCAAGCCCGTGGACTTC	0.612000			"""F, N, Mis"""		NSCLC								9	58					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108229378	108229378	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:108229378C>T	ENST00000273353.3	-	2	116	c.60G>A	c.(58-60)aaG>aaA	p.K20K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	20	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACAGATCCATCTTTATTAAAG	0.423000													15	32					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169834	49169834	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:49169834C>T	ENST00000307885.4	-	8	2412	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	ADCY6_ENST00000357869.3_Missense_Mutation_p.R573Q|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R573Q	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	573					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGAGTTGGCCCGAGTCCGCTG	0.647000													4	20					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216217	131216217	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:131216217C>T	ENST00000337057.3	-	9	1460	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	EPB41L2_ENST00000525271.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G427R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G427R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G427R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G427R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G427R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	427	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGAGAAGTCCATTAGCACAC	0.403000													19	95					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588462	138588462	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138588462G>A	ENST00000298466.5	-	5	717	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SOHLH1_ENST00000425225.1_Silent_p.F219F	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	219					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACTCACCTGAGAAAGGGGGCA	0.657000													5	31					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680484	72680484	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:72680484C>T	ENST00000261180.4	+	2	899	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268					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						ACTCAGTTTTCGCCTACACAT	0.363000													9	52					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33098694	33098694	+	Silent	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:33098694G>T	ENST00000306065.4	-	23	2378	c.2220C>A	c.(2218-2220)acC>acA	p.T740T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	740					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CGTCCTGGCTGGTCACGTTCA	0.632000													4	20					1	1	1	1	0
NOS2	4843	broad.mit.edu	37	17	26084380	26084380	+	Splice_Site	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:26084380C>A	ENST00000313735.6	-	27	3588		c.e27-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						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)	GCTTCTGGCTCTTTTAGGTAA	0.537000											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	65					2.61681e-11	2.64767e-11	1	1	0
ZNF211	10520	broad.mit.edu	37	19	58146083	58146083	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58146083C>T	ENST00000544273.1	+	4	540	c.213C>T	c.(211-213)ttC>ttT	p.F71F	ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000240731.4_Silent_p.F72F|ZNF211_ENST00000347302.3_Silent_p.F59F|ZNF211_ENST00000299871.5_Silent_p.F72F|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000420680.1_Silent_p.F63F|ZNF211_ENST00000541801.1_5'UTR			Q13398	ZN211_HUMAN	zinc finger protein 211	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTGTACTTCGATGTGATGC	0.512000													27	104					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617099	79617099	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:79617099G>A	ENST00000296739.4	+	1	1310	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGCCAATTCAGATAAACTATA	0.383000													11	63					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762423	71762423	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:71762423G>A	ENST00000258104.3	+	15	1656	c.1379G>A	c.(1378-1380)aGg>aAg	p.R460K	DYSF_ENST00000413539.2_Missense_Mutation_p.R491K|DYSF_ENST00000429174.2_Missense_Mutation_p.R460K|DYSF_ENST00000409762.1_Missense_Mutation_p.R491K|DYSF_ENST00000409744.1_Missense_Mutation_p.R461K|DYSF_ENST00000410041.1_Missense_Mutation_p.R492K|DYSF_ENST00000409582.3_Missense_Mutation_p.R491K|DYSF_ENST00000409366.1_Missense_Mutation_p.R461K|DYSF_ENST00000394120.2_Missense_Mutation_p.R461K|DYSF_ENST00000409651.1_Missense_Mutation_p.R492K|DYSF_ENST00000410020.3_Missense_Mutation_p.R492K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	460	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAAAATGAGGATTCGTATC	0.527000													44	103					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989833	73989833	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:73989833C>T	ENST00000553558.1	-	3	345	c.24G>A	c.(22-24)aaG>aaA	p.K8K	HEATR4_ENST00000334988.2_Silent_p.K8K|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_5'UTR	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGAGAAAGGTCTTTCCCTTCT	0.532000													3	9					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463026	62463026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:62463026G>A	ENST00000430451.2	+	1	486	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SYT16_ENST00000446982.2_Missense_Mutation_p.D97N	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	97										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGTAATAGTGATTTGCAGGA	0.433000													12	69					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995792	100995792	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:100995792C>T	ENST00000375066.5	-	4	778	c.687G>A	c.(685-687)caG>caA	p.Q229Q	TBC1D2_ENST00000375064.1_Silent_p.Q229Q|TBC1D2_ENST00000342112.5_Silent_p.Q11Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	229						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGCCTGTTCCCTGGGCCTGCT	0.592000													40	178					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978600	50978600	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50978600C>T	ENST00000600100.1	-	3	885	c.521G>A	c.(520-522)gGa>gAa	p.G174E	FAM71E1_ENST00000595790.1_Missense_Mutation_p.G158E			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	174										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TTGCAGGTGTCCGTTCTCCTT	0.652000													11	33					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897417	36897417	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:36897417C>T	ENST00000301807.6	-	12	3911	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E672K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1222K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1222					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E672K(2)|p.E1222K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCCATCTTCGTTTCTCAGA	0.483000													29	59					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53699256	53699256	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:53699256C>T	ENST00000371470.3	-	3	377	c.216G>A	c.(214-216)gaG>gaA	p.E72E	MAGOH_ENST00000462941.1_5'UTR|MAGOH_ENST00000371466.4_Intron	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	72					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGCATCATCCTCTTTGGTAA	0.418000													30	190					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119810202	119810202	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:119810202G>A	ENST00000307142.4	+	1	207	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SYNPO2_ENST00000429713.2_Missense_Mutation_p.G4E|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G4E|SYNPO2_ENST00000448416.2_Missense_Mutation_p.G4E	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	4						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGGGCACAGGGGATTTTATC	0.547000													17	76					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832678	31832678	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31832678G>A	ENST00000544672.1	-	19	1909	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	SLC44A4_ENST00000375562.4_Missense_Mutation_p.S572F|SLC44A4_ENST00000229729.6_Missense_Mutation_p.S614F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	614						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAAAAGAAGGACAGGACCCC	0.567000													3	30					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38980751	38980751	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38980751G>A	ENST00000355481.4	+	36	5981	c.5850G>A	c.(5848-5850)gaG>gaA	p.E1950E	RYR1_ENST00000359596.3_Silent_p.E1950E|RYR1_ENST00000360985.3_Silent_p.E1950E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1950	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGACCAAGAGCTGCAGCACC	0.572000													15	85					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96358092	96358092	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96358092C>T	ENST00000231368.5	+	14	3157	c.2465C>T	c.(2464-2466)gCc>gTc	p.A822V	LNPEP_ENST00000395770.3_Missense_Mutation_p.A808V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	822					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCGGTCAGCCCTGCTAGAG	0.453000													13	30					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382667	79382667	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:79382667C>T	ENST00000419573.3	-	1	448	c.174G>A	c.(172-174)tcG>tcA	p.S58S	RASGRF1_ENST00000558480.2_Silent_p.S58S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	58	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCGCGAGCTCGAGTCGCTCT	0.637000													14	64					0	0	1	0	0
RP11-445N18.7	0	broad.mit.edu	37	10	45648298	45648298	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:45648298G>A	ENST00000427229.2	+	0	1687																											AAATGGAATGGTTGCATCACT	0.323000													3	12					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961379	1961379	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:1961379C>T	ENST00000217305.2	-	4	580	c.355G>A	c.(355-357)Gag>Aag	p.E119K	PDYN_ENST00000540134.1_Missense_Mutation_p.E119K|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.E119K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	119					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.K118_E119>N*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGTGTTCTCCTTTGTTGAG	0.552000													18	84					0	0	1	0	0
MEAF6	64769	broad.mit.edu	37	1	37980287	37980287	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:37980287C>T	ENST00000373075.2	-	1	77	c.61G>A	c.(61-63)Gag>Aag	p.E21K	MEAF6_ENST00000296214.5_Missense_Mutation_p.E21K|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000448519.2_Missense_Mutation_p.E21K|MEAF6_ENST00000373073.4_Missense_Mutation_p.E21K	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	21					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTCACGAGCTCCGCCAGCTCC	0.756000													3	19					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346682	116346682	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:116346682C>T	ENST00000374140.2	+	21	3199	c.2990C>T	c.(2989-2991)tCc>tTc	p.S997F	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S716F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Missense_Mutation_p.S318F|RGS3_ENST00000374134.3_Missense_Mutation_p.S318F|RGS3_ENST00000350696.5_Missense_Mutation_p.S997F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	997					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACCACCTTTCCCTCTTCTTC	0.612000													7	43					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046014	151046014	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:151046014G>A	ENST00000325602.5	-	2	849	c.830C>T	c.(829-831)cCa>cTa	p.P277L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	277						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTGAGTATATGGAACTCTGGC	0.368000													19	36					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155755	111155755	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:111155755G>A	ENST00000262839.2	-	3	1582	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	222					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGCCCAGACGGAAGGCAGTT	0.557000													39	122					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231369	100231369	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:100231369G>A	ENST00000231461.5	-	2	544	c.234C>T	c.(232-234)gtC>gtT	p.V78V	ST8SIA4_ENST00000451528.2_Silent_p.V78V	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	78					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTATCTCTAGGACCAAAGAGG	0.378000													13	75					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681515	55681515	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55681515G>A	ENST00000344514.1	-	1	543	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182T(1)		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						AAGAGAGGAGGGATATCACAG	0.403000													18	99					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38783249	38783249	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:38783249G>A	ENST00000359357.3	+	24	2942	c.2688G>A	c.(2686-2688)atG>atA	p.M896I	DNAH8_ENST00000449981.2_Missense_Mutation_p.M1113I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M896I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACAGGTGATGATTCCTAGTT	0.493000													4	50					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432305	20432305	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:20432305C>T	ENST00000377252.3	+	5	1464	c.623C>T	c.(622-624)cCc>cTc	p.P208L	PLXDC2_ENST00000377242.3_Missense_Mutation_p.P159L|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	208						integral to membrane		p.P208L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AATTTCGATCCCAGTGTATCC	0.358000													12	86					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285791	47285791	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47285791C>T	ENST00000542575.2	-	4	1301	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SLC1A5_ENST00000412532.2_5'UTR|SLC1A5_ENST00000594991.1_Missense_Mutation_p.E49K|SLC1A5_ENST00000434726.2_Missense_Mutation_p.E23K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	225					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCCTCCACCTCCTGCCCCACG	0.607000													23	109					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802855	185802855	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:185802855C>T	ENST00000302277.6	+	4	3326	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	911						intracellular	zinc ion binding	p.S911Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAGATGTTTCCAATGATCCC	0.403000													37	42					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731583	141731583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141731583G>A	ENST00000475668.2	+	13	1628	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	MGAM_ENST00000549489.2_Missense_Mutation_p.G525E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	525	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGTTTGATGGAATCTGGATT	0.378000													9	64					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408171	29408171	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29408171G>A	ENST00000444197.2	+	1	1089	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCCATCTGTGAACCCCTCCG	0.637000													10	57					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49657579C>T	ENST00000252825.4	-	1	1102	c.916G>A	c.(916-918)Gat>Aat	p.D306N	HRC_ENST00000595625.1_Missense_Mutation_p.D306N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532000													14	60					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301793	11301793	+	Missense_Mutation	SNP	C	C	T	rs2067469		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:11301793C>T	ENST00000397056.1	+	3	1261	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	HRH1_ENST00000438284.2_Missense_Mutation_p.S357F|HRH1_ENST00000431010.2_Missense_Mutation_p.S357F	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	357					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATAGCCAATCCTTCTCTCGA	0.517000													25	84					0	0	1	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234021	2234021	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2234021G>T	ENST00000589097.1	-	6	1473	c.360C>A	c.(358-360)aaC>aaA	p.N120K	PLEKHJ1_ENST00000587962.1_Missense_Mutation_p.N120K|PLEKHJ1_ENST00000587394.1_Missense_Mutation_p.N120K|PLEKHJ1_ENST00000586608.1_Missense_Mutation_p.N121K|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.N120K|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000591099.1_Missense_Mutation_p.T90K|PLEKHJ1_ENST00000588545.1_Missense_Mutation_p.N101K			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	120							protein binding			endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGATTTCGTTCCTGTAGA	0.637000													49	257					6.4308e-24	6.51432e-24	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131912288	131912288	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131912288C>T	ENST00000359827.3	-	7	2766	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D602N			Q9HCM2	PLXA4_HUMAN	plexin A4	602						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						ACCAGCCCATCCATCTCTGAC	0.607000													9	108					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702693	27702693	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:27702693C>T	ENST00000438700.3	-	1	604	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	163					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCTTCCTCTTCGTCCTTGGGT	0.662000													41	182					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816561	14816561	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:14816561C>T	ENST00000181796.2	-	1	335	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTCTCCCTCGTATTCCCAA	0.542000													20	71					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137701	40137701	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:40137701G>A	ENST00000278198.2	-	2	2105	c.142C>T	c.(142-144)Cct>Tct	p.P48S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P48S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P48S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P48S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	48	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACACAGAAGGGCAGGTCTGA	0.562000													4	19					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267601	31267601	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:31267601C>T	ENST00000265071.2	+	2	286	c.21C>T	c.(19-21)ttC>ttT	p.F7F	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	7					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCGCTACTTCTTGCTGCTCT	0.537000													17	77					0	0	1	0	0
PMCHL2	5370	broad.mit.edu	37	5	70671794	70671794	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:70671794G>A	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							GAGAAACTGGGGATGAAGAAA	0.368000													3	13					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665297	157665297	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:157665297G>A	ENST00000368184.3	-	8	1524	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.P411P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	411	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACAGGATCGGGGGAGAGCCTC	0.597000													13	70					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358356	24358356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:24358356C>T	ENST00000175238.6	+	19	2139	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	ADAM7_ENST00000520720.1_Missense_Mutation_p.L458F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L686F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	686					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TATCGGAGTTCTTATACTATT	0.378000													7	66					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949951	61949951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:61949951G>A	ENST00000336844.5	-	4	593	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	CSH2_ENST00000392886.2_Nonsense_Mutation_p.Q148*|CSH2_ENST00000560142.1_Nonsense_Mutation_p.Q91*|CSH2_ENST00000345366.7_Intron	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	148					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ATCAGCGTTTGGATGCCTTCC	0.587000													16	86					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371687	34371687	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:34371687A>G	ENST00000297625.7	-	2	1378	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	419			F -> Y (in dbSNP:rs7852399).		carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGCGCAGGTAACCGGCCCGTG	0.682000													3	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064403	9064403	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9064403C>T	ENST00000397910.4	-	3	23246	c.23043G>A	c.(23041-23043)gtG>gtA	p.V7681V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7683	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						TGGTTTCTTTCACAAAGGGAG	0.547000													14	47					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837489	17837489	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:17837489C>T	ENST00000324096.4	+	5	1447	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.F406F	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	432	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCGTGCTGTTCCCCGGTTGCA	0.751000													3	8					0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87208012	87208012	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:87208012C>T	ENST00000370558.4	+	8	1207	c.883C>T	c.(883-885)Cct>Tct	p.P295S	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.P195S|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.P316S	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	295					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AATCACCTCTCCTTCCAACCT	0.448000													8	47					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400710	11400710	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11400710G>A	ENST00000227756.4	-	4	1108	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		ACCCTGGAGCGGATGAGGCCT	0.587000													4	46					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208940	65208940	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65208940C>T	ENST00000247226.7	+	14	2845	c.2537C>T	c.(2536-2538)cCa>cTa	p.P846L	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P407L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P435L|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P902L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	902					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGTGGCCCCACTGCACCCC	0.667000													9	48					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710584	110710584	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:110710584C>T	ENST00000282356.4	+	3	675	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	CAMK4_ENST00000512453.1_Missense_Mutation_p.L93F	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	93	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GATAGGAGTTCTTCTTCGCCT	0.383000													6	28					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22591996	22591996	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22591996G>A	ENST00000390455.3	+	0	290																											CCCCCTCCATGGATTGCGCTG	0.463000													24	89					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8539104	8539104	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8539104G>A	ENST00000348943.3	+	13	1211	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	HNRNPM_ENST00000325495.4_Missense_Mutation_p.G366R	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	366					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATTTGGATCTGGGATGAACAT	0.493000													32	154					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029535	83029535	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:83029535C>T	ENST00000307792.3	-	11	1642	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G332E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	392	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTGGTGGTTCCGTATCTCCC	0.383000													7	100					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767078	77767078	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:77767078G>A	ENST00000521891.2	+	10	8369	c.7921G>A	c.(7921-7923)Gaa>Aaa	p.E2641K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2596K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2596K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2615K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2596						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)			TATTGCCCGCGAAGTCGGGCT	0.512000										HNSCC(33;0.089)			7	40					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492579	78492579	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:78492579C>T	ENST00000377211.4	-	2	552	c.400G>A	c.(400-402)Gag>Aag	p.E134K	EDNRB_ENST00000334286.5_Missense_Mutation_p.E44K|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.E44K	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	44					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCATTATCTCTGCGGTTTGC	0.627000													13	71					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236890999	236890999	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:236890999C>T	ENST00000366578.4	+	6	724	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.L186L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	186	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCTTGGACTCTGTGCCCTCA	0.542000													19	83					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471471	146471471	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:146471471G>A	ENST00000361727.3	+	2	722	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	69	F5/8 type C.				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	p.G69E(1)		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)			AACAAGAGAGGAGGTAAGCCA	0.393000										HNSCC(39;0.1)			3	29					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:142795241C>T	ENST00000370498.1	-	2	1190	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	146								p.I24I(2)|p.G146E(2)		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)					CTGTGAAGATCCTTCAGATGA	0.527000													73	131					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660651	141660651	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141660651C>T	ENST00000389484.3	-	23	4575	c.3604G>A	c.(3604-3606)Gga>Aga	p.G1202R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1202					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)		AGTTGAAGTCCTTCAGGGCAG	0.428000										TSP Lung(27;0.18)			22	27					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070838	70070838	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70070838G>A	ENST00000370598.1	+	29	4494	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	BAI3_ENST00000238918.8_Missense_Mutation_p.E431K|BAI3_ENST00000546190.1_Missense_Mutation_p.E189K	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1225					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATGATGATGAAGAAGAAAA	0.413000													8	31					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647892	35647892	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:35647892C>T	ENST00000287272.2	+	16	2486	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	UNC5D_ENST00000416672.1_Silent_p.F896F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000453357.2_Silent_p.F886F|UNC5D_ENST00000404895.2_Silent_p.F891F|UNC5D_ENST00000420357.1_Silent_p.F824F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	891					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393000													9	56					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908410	139908410	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139908410G>A	ENST00000265662.5	-	28	4468	c.4321C>T	c.(4321-4323)Cac>Tac	p.H1441Y	ABCA2_ENST00000371605.3_Missense_Mutation_p.H1440Y|ABCA2_ENST00000341511.6_Missense_Mutation_p.H1441Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1440					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCAGCCCGTGGAACTGGCGC	0.657000													11	41					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049142	21049142	+	Missense_Mutation	SNP	G	G	A	rs140821281	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21049142G>A	ENST00000261383.3	-	34	4890	c.4891C>T	c.(4891-4893)Cgg>Tgg	p.R1631W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1631W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1631					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAATGCCCGGAGCAGCAGG	0.522000													9	32					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:33284382G>A	ENST00000431845.2	-	2	463	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZBTB22_ENST00000418724.1_Silent_p.A104A	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A104A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTCTCAAAGGCGCCTGGGT	0.577000													34	150					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890376	229890376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:229890376G>A	ENST00000392054.3	-	4	1058	c.719C>T	c.(718-720)tCc>tTc	p.S240F	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.S160F|PID1_ENST00000392055.3_Missense_Mutation_p.S209F|PID1_ENST00000354069.6_Missense_Mutation_p.S242F	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	242	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAATTCCTGGGAAACCTCTTC	0.512000													34	83					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162526	103162526	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103162526C>T	ENST00000428762.1	-	48	7770	c.7611G>A	c.(7609-7611)ggG>ggA	p.G2537G	RELN_ENST00000343529.5_Silent_p.G2537G|RELN_ENST00000424685.2_Silent_p.G2537G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2537					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACTCAATTTCCCTCCGTTCA	0.517000													20	157					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044523	25044523	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:25044523C>T	ENST00000216336.2	-	2	187	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	51	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACCAGGAACCCTCCACATCTG	0.607000													28	136					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917212	48917212	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48917212C>T	ENST00000311378.4	+	2	1091	c.563C>T	c.(562-564)cCa>cTa	p.P188L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P95L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	188						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCCCCCACCACCTGAGACC	0.637000													19	56					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34430609	34430609	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:34430609C>T	ENST00000374012.3	+	3	327	c.198C>T	c.(196-198)cgC>cgT	p.R66R	PHF20_ENST00000439301.1_Silent_p.R66R|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTTATTTACGCCCTTTAGAGA	0.438000													8	49					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307675	46307675	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46307675C>T	ENST00000357422.2	+	4	1569	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	CCR3_ENST00000395942.2_Silent_p.V342V|CCR3_ENST00000395940.2_Silent_p.V342V|CCR3_ENST00000541018.1_Silent_p.V342V|CCR3_ENST00000545097.1_Silent_p.V363V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	342					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCAGCTCTGTCTCTCCATCCA	0.488000													10	45					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880080	37880080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:37880080C>T	ENST00000436120.2	+	5	1236	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGAACATCAGAGAATTCA	0.438000													7	45					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862781	10862781	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:10862781C>T	ENST00000559480.1	+	0	77																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGGTGCAGTCTGGGGCTGAG	0.572000													20	235					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170021	32170021	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32170021C>T	ENST00000375023.3	-	21	3725	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1196					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						ATCCCAGTTTCCTCCCGGGCC	0.672000													11	62					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483147	59483147	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:59483147C>T	ENST00000312828.3	-	2	1649	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	184					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCACGATGCCGAGGAGGAAG	0.567000													24	123					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895563	31895563	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31895563T>C	ENST00000456570.1	+	1	89	c.34T>C	c.(34-36)Ttc>Ctc	p.F12L	CFB_ENST00000477310.1_Missense_Mutation_p.F12L|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.F12L|CFB_ENST00000556679.1_Missense_Mutation_p.F12L|C2_ENST00000442278.2_Missense_Mutation_p.F12L|C2_ENST00000299367.5_Missense_Mutation_p.F12L			P00751	CFAB_HUMAN	complement factor B	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTGCCTGCTGTTCCTGTACCC	0.572000													73	310					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118902	100118902	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:100118902G>A	ENST00000330710.5	+	2	695	c.597G>A	c.(595-597)atG>atA	p.M199I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.M199I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	199					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCGTGGCCATGGTCCATGCCA	0.677000													17	35					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683332	72683332	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:72683332C>T	ENST00000425256.1	-	0	191					NR_002164.1																						CCCTGCACTACCACAGCCGAC	0.488000													18	306					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488642	130488642	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130488642G>A	ENST00000373289.3	+	10	1464	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	462							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCCCGCCAGGATGTGGCCAC	0.602000													15	61					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645328	122645328	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:122645328C>T	ENST00000195173.4	-	9	1350	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	SEMA5B_ENST00000357599.3_Silent_p.P349P|SEMA5B_ENST00000451055.2_Silent_p.P403P			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	349	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGACCTCGCCCGGGCGGGAGC	0.602000													17	42					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157181	155157181	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:155157181C>T	ENST00000357232.3	-	25	7257	c.7258G>A	c.(7258-7260)Gaa>Aaa	p.E2420K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2420	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTCAAATTCATCTATCCCT	0.428000													13	49					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534138	92534138	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:92534138C>T	ENST00000298047.6	+	9	7976	c.7959C>T	c.(7957-7959)atC>atT	p.I2653I	FAT3_ENST00000409404.2_Silent_p.I2653I|FAT3_ENST00000525166.1_Silent_p.I2503I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2653	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I2653I(2)		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)				TCCTGGAAATCGATCCTGACA	0.463000										TCGA Ovarian(4;0.039)			6	11					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516566	140516566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140516566C>T	ENST00000231134.5	+	1	1767	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		517	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.697000													30	162					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179710428	179710428	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179710428G>A	ENST00000420890.2	-	22	3516	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	CCDC141_ENST00000295723.5_Silent_p.F558F|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	558							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCATAATGGAAGTCTTCCA	0.373000													11	16					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101462315	101462315	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:101462315G>A	ENST00000370489.4	+	12	1646	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R	CUTC_ENST00000493385.1_3'UTR	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	490						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTACATGAAGGATTCCACTT	0.393000													9	8					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014449	21014449	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21014449C>T	ENST00000261383.3	-	42	6102	c.6103G>A	c.(6103-6105)Gaa>Aaa	p.E2035K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2035					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAACTTTTTCCTCCTCTTTG	0.383000													15	91					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113826188	113826188	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:113826188G>A	ENST00000342783.4	+	9	1045	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	PROZ_ENST00000375547.2_Silent_p.G324G	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	324	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TTGTGGAGGGGGAGGAGTGCG	0.632000													13	51					0	0	1	0	0
TMEM239	100288797	broad.mit.edu	37	20	2795836	2795836	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:2795836C>T	ENST00000554164.1	+	2	89	c.6C>T	c.(4-6)acC>acT	p.T2T	C20orf141_ENST00000603872.1_Silent_p.T2T|C20orf141_ENST00000380589.4_Silent_p.T2T|TMEM239_ENST00000380593.4_Silent_p.T2T			Q8WW34	Q8WW34_HUMAN	transmembrane protein 239	0																	TCTCCATGACCCGGCTCTGCT	0.612000													32	158					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517000													17	91					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32847604	32847604	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:32847604C>T	ENST00000311921.3	+	3	2402	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F	ZNF507_ENST00000544431.1_Missense_Mutation_p.S737F|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S737F	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCAAGAATTTCCAGTGATACA	0.403000													15	56					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139674277	139674277	+	Missense_Mutation	SNP	C	C	T	rs146190475	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139674277C>T	ENST00000303045.6	-	43	3682	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1059Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1079	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTACGTCCCGGCCGGCTGG	0.542000										HNSCC(7;0.00092)			14	62					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209928	57209928	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57209928C>T	ENST00000343433.6	-	10	1479	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	467										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCCAAAACCTCCAGATGCCCA	0.453000													3	10					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62979270	62979270	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:62979270C>T	ENST00000393630.3	+	34	5290	c.4899C>T	c.(4897-4899)tgC>tgT	p.C1633C	MON2_ENST00000280379.6_Silent_p.C1633C|MON2_ENST00000546600.1_Silent_p.C1632C|MON2_ENST00000552738.1_Silent_p.C1603C|MON2_ENST00000393632.2_Silent_p.C1632C|MON2_ENST00000393629.2_Silent_p.C1626C	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1633					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGTAAATGCCCTCTTCCAA	0.333000													6	23					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201294249	201294249	+	Missense_Mutation	SNP	G	G	A	rs139909774		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:201294249G>A	ENST00000263946.3	+	12	2329	c.2078G>A	c.(2077-2079)cGa>cAa	p.R693Q	PKP1_ENST00000367324.3_Missense_Mutation_p.R672Q|PKP1_ENST00000352845.3_Missense_Mutation_p.R693Q	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	693					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AACCTGTGCCGAAGCAGGTGG	0.612000													42	166					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:59157987C>T	ENST00000262717.4	+	2	599	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_ENST00000538374.1_Silent_p.F67F|CDH20_ENST00000536675.2_Silent_p.F67F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000													30	109					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536847	146536847	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:146536847C>T	ENST00000361727.3	+	3	769	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	85	F5/8 type C.				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)			TTATCAATGGCTTCAGGTTGA	0.468000										HNSCC(39;0.1)			13	81					0	0	1	0	0
TRAV16	28667	broad.mit.edu	37	14	22458988	22458988	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22458988C>T	ENST00000390444.1	+	0	140																											TATTCCTATTCTGGGAGTCCT	0.502000													3	8					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084802	39084802	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:39084802C>T	ENST00000209718.3	-	5	1118	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	KRT23_ENST00000436344.3_Missense_Mutation_p.G95S|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	232	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCCTGGGACCTGTATCCACC	0.398000													33	138					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926790	92926790	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:92926790C>T	ENST00000373079.3	-	1	1777	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	505					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GACTTATTTTCTGTATTTCTT	0.318000													9	7					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344974	102344974	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:102344974G>A	ENST00000376180.3	+	8	1274	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G211E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G259E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	352	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATCCTCCAGGAGATCGCCGG	0.483000													18	77					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712307	140712307	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140712307G>A	ENST00000517417.1	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D686N	NM_018912.2	NP_061735.1												p.D686N(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACCCAACGATTCGGACCT	0.692000													58	201					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786542	113786542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:113786542G>A	ENST00000259213.4	-	4	342	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	IL36B_ENST00000327407.2_Nonsense_Mutation_p.Q79*	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	79					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGCTTGCCCTGAATTTCTGCA	0.398000													41	62					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531857	50531857	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:50531857G>A	ENST00000374144.3	+	3	1555	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E423K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	423										endometrium(1)	1						ACAGTTTTCAGAAAACAATGC	0.458000													17	67					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884924	63884924	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:63884924G>A	ENST00000246841.3	+	2	2228	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	367					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAAGACCACGGCCAGCAACC	0.642000													6	32					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123542087	123542087	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:123542087G>A	ENST00000264497.3	-	1	137	c.80C>T	c.(79-81)tCa>tTa	p.S27L	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	20					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TTGGGAGCTTGATTTGTGGAC	0.418000													12	48					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306729	129306729	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:129306729C>T	ENST00000281437.4	+	2	367	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	91										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)		CCCTGCCACCCCGGGAATCGC	0.677000													38	174					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086253	171086253	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:171086253G>A	ENST00000367755.4	+	9	1381	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	FMO3_ENST00000538429.1_Missense_Mutation_p.E361K|FMO3_ENST00000542847.1_Missense_Mutation_p.E404K|FMO3_ENST00000392085.2_Missense_Mutation_p.E424K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	424					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCAAAAGCGAGACCATACA	0.438000													10	53					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R243Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCGTCAAATCGCAGGGAGGC	0.597000													41	201					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169374318	169374318	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169374318A>T	ENST00000511577.1	-	8	1200	c.953T>A	c.(952-954)aTc>aAc	p.I318N	DDX60L_ENST00000505890.1_Missense_Mutation_p.I318N|DDX60L_ENST00000260184.7_Missense_Mutation_p.I318N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	318							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAGCATGTGATGACTCGAGA	0.413000													4	54					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124506	102124506	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:102124506C>T	ENST00000369138.1	+	4	1040	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	GRIK2_ENST00000358361.3_Missense_Mutation_p.R184C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R184C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R184C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R135C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R184C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R184C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	184					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGTCTCATTCGTTTGCAAGA	0.313000													3	22					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574760	102574760	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:102574760C>T	ENST00000249377.4	+	2	681	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L134F|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	134					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACTCACCACCCTCTTACTGCA	0.443000													19	37					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945164	58945164	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58945164C>T	ENST00000254166.3	-	3	2047	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CAAAGGCTTTCCCACACTCAC	0.468000													9	71					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806481	97806481	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97806481C>T	ENST00000358642.2	+	1	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TAATTGGTTTCCTGCATCCTC	0.363000													36	168					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75501281	75501281	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:75501281G>T	ENST00000228027.7	+	3	559	c.299G>T	c.(298-300)tGg>tTg	p.W100L	DGAT2_ENST00000376262.3_Missense_Mutation_p.W57L	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	100					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					ACTGATTGCTGGCTCATCGCT	0.557000													34	191					6.29468e-14	6.37267e-14	1	1	0
PREX2	80243	broad.mit.edu	37	8	68942751	68942751	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:68942751C>T	ENST00000288368.4	+	6	840	c.563C>T	c.(562-564)cCa>cTa	p.P188L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	188	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGCGGACTCCACGGAAACAC	0.458000													8	31					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736636	27736636	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:27736636G>A	ENST00000430629.2	-	8	1104	c.889C>T	c.(889-891)Cca>Tca	p.P297S	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	297					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGATGGCTTGGGCTGACCACA	0.562000													10	63					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18643005	18643005	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:18643005T>A	ENST00000215794.7	+	3	654	c.224T>A	c.(223-225)aTg>aAg	p.M75K		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	75					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GTGTTCGTAATGAATGTGGAC	0.413000													27	115					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106237046	106237046	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106237046G>A	ENST00000390551.2	-	0	304																											CACCAAGTGGGGTTTTGAGCT	0.572000													28	160					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12224997	12224997	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:12224997G>A	ENST00000432424.2	+	0	1666							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAACGAAAGGAAAGCGGGGA	0.448000													4	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444921	179444921	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179444921C>T	ENST00000589042.1	-	318	67317	c.67093G>A	c.(67093-67095)Gaa>Aaa	p.E22365K	TTN_ENST00000359218.5_Missense_Mutation_p.E13425K|TTN_ENST00000342175.6_Missense_Mutation_p.E13492K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19797K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20724K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13300K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20724	Fibronectin type-III 62.						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)			TTGGATATTTCCTTAACAGTC	0.373000													12	14					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038720	62038720	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:62038720G>A	ENST00000354587.3	-	17	2096	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S	KCNQ2_ENST00000370226.1_Silent_p.S602S|KCNQ2_ENST00000430658.1_Silent_p.S601S|KCNQ2_ENST00000344462.3_Silent_p.S628S|KCNQ2_ENST00000370224.1_Silent_p.S640S|KCNQ2_ENST00000359125.2_Silent_p.S632S|KCNQ2_ENST00000360480.3_Silent_p.S604S|KCNQ2_ENST00000359689.1_Silent_p.S632S|KCNQ2_ENST00000357249.2_Silent_p.S614S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	632					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCTTCTCCATGGACAAGACCT	0.637000													11	67					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326371	54326371	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:54326371G>A	ENST00000231009.2	+	3	392	c.322G>A	c.(322-324)Gtt>Att	p.V108I	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATTCTCAAGAGTTACATCAGA	0.398000													19	92					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220960	118220960	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:118220960G>A	ENST00000402510.2	-	11	4232	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1411										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						AACCTTGGCTGAATTTCTTGG	0.463000													21	40					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405184	142405184	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:142405184G>A	ENST00000337777.3	+	9	1160	c.947G>A	c.(946-948)gGa>gAa	p.G316E	PLS1_ENST00000497002.1_Missense_Mutation_p.G316E|PLS1_ENST00000457734.2_Missense_Mutation_p.G316E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	316	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GGGGAAGATGGACCTGCCATT	0.338000													23	136					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56725651	56725651	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:56725651C>T	ENST00000260129.5	+	12	2890	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	805	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.L805I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTTATTTTCTTCCAAGAAA	0.323000													6	41					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716206	39716206	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:39716206C>T	ENST00000553728.1	+	4	641	c.428C>T	c.(427-429)cCt>cTt	p.P143L	MIA2_ENST00000280082.3_Missense_Mutation_p.P143L|MIA2_ENST00000556784.1_Missense_Mutation_p.P142L																							AATATATATCCTTATGAAGAA	0.294000													4	29					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1616260	1616260	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:1616260G>A	ENST00000426508.2	-	16	2166	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	601										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)				CAACATCGTAGAAGCAGATTT	0.488000													32	110					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100733174	100733174	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:100733174C>T	ENST00000358544.2	+	39	7135	c.7024C>T	c.(7024-7026)Cca>Tca	p.P2342S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P2317S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2342					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGGAGATATCCAGAACCTAG	0.393000													11	49					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310557	178310557	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:178310557C>T	ENST00000322434.3	+	5	1330	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCTCATCCCTTCGTTATC	0.413000													11	53					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187698	152187698	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152187698T>G	ENST00000368801.2	-	3	6482	c.6407A>C	c.(6406-6408)cAc>cCc	p.H2136P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTAGAGCCGTGTTGTCCGTA	0.562000													37	1527					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218838	49218838	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:49218838C>T	ENST00000327979.2	-	13	1829	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	FAM65C_ENST00000045083.2_Missense_Mutation_p.G473E|FAM65C_ENST00000535356.1_Missense_Mutation_p.G477E			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	473										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTCCCCTCCTAAGTTCCT	0.677000													4	37					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886878	9886878	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:9886878C>T	ENST00000306084.6	+	2	601	c.402C>T	c.(400-402)ctC>ctT	p.L134L	TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.L67L|TXNDC2_ENST00000357775.4_Silent_p.L67L|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	134	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGACCTCCCCAAGTCCT	0.542000													21	127					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228549	4228549	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:4228549G>A	ENST00000379453.4	-	1	1172	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	352					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CACCCACGACGATGGCCAGAG	0.637000													4	16					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675732	167675732	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:167675732G>A	ENST00000357154.3	-	9	1004	c.867C>T	c.(865-867)ttC>ttT	p.F289F	SPOCK3_ENST00000502330.1_Silent_p.F289F|SPOCK3_ENST00000511531.1_Silent_p.F289F|SPOCK3_ENST00000534949.1_Silent_p.F193F|SPOCK3_ENST00000421836.2_Silent_p.F238F|SPOCK3_ENST00000541637.1_Silent_p.F191F|SPOCK3_ENST00000512681.1_Silent_p.F191F|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Silent_p.F286F|SPOCK3_ENST00000357545.4_Silent_p.F286F|SPOCK3_ENST00000541354.1_Silent_p.F169F|SPOCK3_ENST00000512648.1_Silent_p.F286F|SPOCK3_ENST00000510741.1_Silent_p.F246F|SPOCK3_ENST00000535728.1_Silent_p.F157F|SPOCK3_ENST00000504953.1_Silent_p.F286F|SPOCK3_ENST00000506886.1_Silent_p.F289F	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	289					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)		CACAAGAATTGAAGAATGCCT	0.398000													11	43					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910813	7910813	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7910813C>T	ENST00000254854.4	+	6	1683	c.1533C>T	c.(1531-1533)acC>acT	p.T511T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	511					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				ACGACATCACCTTTCTCCACC	0.572000													24	152					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:151358362G>A	ENST00000370314.4	-	9	1221	c.983C>T	c.(982-984)tCc>tTc	p.S328F	GABRA3_ENST00000370311.1_Missense_Mutation_p.S328F|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.S328F	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.S328F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000													8	19					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976126	44976126	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:44976126G>A	ENST00000340446.4	-	1	356	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	22						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCTAGATGATTTTGGTAT	0.418000													48	150					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067966	190067966	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:190067966G>A	ENST00000367462.3	-	8	1714	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	FAM5C_ENST00000534846.1_Missense_Mutation_p.L393F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		495						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)					TTCATCTCGAGATCTTGCAGG	0.498000													37	181					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805791	44805791	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44805791C>T	ENST00000309315.4	+	17	2394	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	ZMIZ2_ENST00000265346.7_Silent_p.F731F|ZMIZ2_ENST00000433667.1_Silent_p.F725F|ZMIZ2_ENST00000441627.1_Silent_p.F757F|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.F699F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	757	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGAACTTTCCCTGAGTCCT	0.662000													6	79					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310050	124310050	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124310050G>A	ENST00000328064.2	-	1	1004	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTTTTCTCAGGAGAATGCATT	0.388000													11	50					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36386000	36386000	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:36386000C>G	ENST00000405275.2	+	6	668	c.425C>G	c.(424-426)aCa>aGa	p.T142R	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.T169R|CTNNBL1_ENST00000373473.1_Intron			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	169					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAATTAACAGATATAGAC	0.418000													8	50					0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5270642	5270642	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5270642C>T	ENST00000330597.3	-	2	358	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		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)		CAGTGCAGTTCACTCAGCTGG	0.517000													9	57					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427792	103427792	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:103427792C>T	ENST00000358392.2	-	40	3407	c.3090G>A	c.(3088-3090)ggG>ggA	p.G1030G	COL11A1_ENST00000512756.1_Silent_p.G902G|COL11A1_ENST00000353414.4_Silent_p.G979G|COL11A1_ENST00000370096.3_Silent_p.G1018G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1018	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCATCTTTCCCTGAGATAC	0.383000													9	66					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58565236G>A	ENST00000282326.1	+	6	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000													8	43					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432545	61432545	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61432545G>A	ENST00000395348.3	-	3	959	c.323C>T	c.(322-324)tCc>tTc	p.S108F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S108F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	108					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S108fs*26(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATGCCATAGGAAAAAAACAG	0.428000													9	34					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434420	201434420	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:201434420G>A	ENST00000357799.4	+	6	606	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SGOL2_ENST00000409203.3_Missense_Mutation_p.D170N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	170					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAGATGAAGATAAAGAGAA	0.328000													21	27					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178857	67178857	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:67178857G>A	ENST00000269081.4	-	22	3499	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	864					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTAGGAGGGATCATCTGAG	0.373000													30	83					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798931	140798931	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140798931C>T	ENST00000398594.2	+	1	1505	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1												p.S502L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACGCTGTCGTCCTACGTG	0.657000													26	104					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830283	231830283	+	Translation_Start_Site	SNP	G	G	A	rs149702548		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:231830283G>A	ENST00000366637.3	+	0	832				DISC1_ENST00000439617.2_Missense_Mutation_p.R260Q|DISC1_ENST00000366633.3_Missense_Mutation_p.R260Q|DISC1_ENST00000602281.1_Missense_Mutation_p.R260Q|DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.R260Q|DISC1_ENST00000317586.4_Missense_Mutation_p.R260Q|DISC1_ENST00000537876.1_Missense_Mutation_p.R260Q|DISC1_ENST00000539444.1_Missense_Mutation_p.R260Q|DISC1_ENST00000366636.4_Missense_Mutation_p.R260Q	NM_001012957.1	NP_001012975.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1						microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAGGACCCGCGATGTCTCTCT	0.627000													3	36					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499389	62499389	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62499389T>C	ENST00000225792.5	-	7	1128	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	DDX5_ENST00000450599.2_Missense_Mutation_p.T164A|DDX5_ENST00000578804.1_Missense_Mutation_p.T243A	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	243	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACAAGGTAGGTTGTTCTTCTC	0.368000			T	ETV4	prostate								23	96					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420810	1420810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:1420810C>T	ENST00000270349.9	-	6	928	c.801G>A	c.(799-801)tgG>tgA	p.W267*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.W267*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	267					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)	TGGCTGTGATCCATACCACCT	0.632000													27	69					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11064035	11064035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:11064035C>T	ENST00000287766.4	+	7	1016	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	SLC6A1_ENST00000536032.1_Nonsense_Mutation_p.Q21*	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	199					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAACATGCATCAGATGACGGA	0.592000													10	71					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383000													16	64					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440102	124440102	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124440102C>T	ENST00000284287.3	+	1	210	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCCTCTTTCTCCTCTTCCTCG	0.512000													12	57					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034741	52034741	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52034741C>T	ENST00000346477.3	-	2	168	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E34K|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E34K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E34K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E34K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	34	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGGCCCCTCCAGCTGGAAT	0.642000													13	56					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572902	140572902	+	Silent	SNP	C	C	T	rs150690310		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140572902C>T	ENST00000239446.4	+	1	961	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F259F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTGGGTTCCTTATTGTTA	0.463000													8	70					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627416	140627416	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140627416G>A	ENST00000231173.3	+	1	2270	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		757					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCTGACGGGAGGCTCTGAA	0.517000													42	199					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614919	247614919	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247614919C>T	ENST00000318749.6	-	1	389	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTCCAGGGCCATGGCGGCCA	0.612000													16	74					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5023178	5023178	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:5023178C>T	ENST00000256495.3	+	4	963	c.360C>T	c.(358-360)gcC>gcT	p.A120A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	120						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AAATCATTGCCCTGCAGAGTG	0.443000													69	441					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699774	45699774	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:45699774C>T	ENST00000297323.7	+	7	1463	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	ADCY1_ENST00000432715.1_Missense_Mutation_p.R256C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	481					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCATCCCATCGCCGAAAGGT	0.488000													16	62					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632402	143632402	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143632402C>T	ENST00000408955.2	+	1	144	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACTCAGATATCCCTGTTTTCC	0.448000													38	249					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728628	50728628	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:50728628G>A	ENST00000449103.1	-	3	526	c.386C>T	c.(385-387)tCc>tTc	p.S129F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S129F			O15031	PLXB2_HUMAN	plexin B2	129	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCGGAGGGAGATGTTGCT	0.652000													8	36					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150310686	150310686	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:150310686C>T	ENST00000520773.1	-	0	2635																											AGTGTGGGTTCTCTGATGTAT	0.408000													5	31					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666650	57666650	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57666650G>A	ENST00000554048.2	-	5	528	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		AGTCCCTCAGGAATCTTGCCC	0.488000													9	45					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860945	118860945	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:118860945C>T	ENST00000504811.1	+	19	1797	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.P373L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P513L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P376L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P495L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P489L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P251L|HSD17B4_ENST00000522415.1_3'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	513	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GACTGGAATCCCTTACACATT	0.328000													8	30					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175137	207175137	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:207175137G>A	ENST00000374423.3	+	5	6271	c.5885G>A	c.(5884-5886)aGa>aAa	p.R1962K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1962							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAATAATTAGACAAGAGGAA	0.398000													16	28					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150931317	150931317	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150931317C>T	ENST00000035307.2	+	1	1733	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CHPF2_ENST00000495645.1_Missense_Mutation_p.P66S	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	74						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCGGATTGTCCCCTACTACAG	0.557000													20	97					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066510	46066510	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:46066510C>T	ENST00000295452.4	-	5	740	c.573G>A	c.(571-573)caG>caA	p.Q191Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	191					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGTTATGAAGCTGAAGATAAC	0.289000													11	88					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119138	3119138	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:3119138C>T	ENST00000304094.1	+	1	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483000													28	162					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216968	21216968	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21216968A>G	ENST00000380216.1	-	1	342	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGTTGCTGGAAAAGTTCAATG	0.473000													37	128					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521469	64521469	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:64521469C>T	ENST00000355086.3	+	20	3029	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	SRGAP1_ENST00000357825.3_Silent_p.S812S|SRGAP1_ENST00000543397.1_Silent_p.S772S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	835					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACATGAACTCCCCGACAGACC	0.572000													7	48					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241150	3241150	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:3241150G>A	ENST00000217939.6	-	5	2730	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	859						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGGAAATGGTACC	0.488000													17	32					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371365	126371365	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:126371365G>A	ENST00000394329.3	+	9	9207	c.9194G>A	c.(9193-9195)gGa>gAa	p.G3065E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1363E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3065	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATAAGGGAAACCCTCCA	0.423000													4	26					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039473	31039473	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:31039473G>A	ENST00000355537.3	+	4	3094	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGGCCAGATGCCGCCTC	0.577000													28	139					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													43	52					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559157	223559157	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:223559157C>T	ENST00000446656.3	+	4	555	c.555C>T	c.(553-555)gtC>gtT	p.V185V		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	185					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTGTCATTGTCCTTGGGGGTG	0.438000													5	40					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384585	101384585	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:101384585G>T	ENST00000312938.4	-	4	1426	c.846C>A	c.(844-846)ttC>ttA	p.F282L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	282	BTB.				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						CCATGCTACAGAAATCAAAAC	0.373000													11	37					0.00136819	0.0013738	1	1	0
TSSK2	23617	broad.mit.edu	37	22	19119651	19119651	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:19119651G>A	ENST00000399635.2	+	1	1331	c.739G>A	c.(739-741)Gac>Aac	p.D247N	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGAGTGCAAGGACCTCATCTA	0.612000													31	96					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17913100	17913100	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:17913100G>A	ENST00000448223.2	-	6	658	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SMC6_ENST00000381272.4_Missense_Mutation_p.A156V|SMC6_ENST00000351948.4_Missense_Mutation_p.A130V|SMC6_ENST00000402989.1_Missense_Mutation_p.A130V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	130					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTTTAAAGGCATCATCTCC	0.358000													21	36					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162527	103162527	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103162527C>T	ENST00000428762.1	-	48	7769	c.7610G>A	c.(7609-7611)gGg>gAg	p.G2537E	RELN_ENST00000343529.5_Missense_Mutation_p.G2537E|RELN_ENST00000424685.2_Missense_Mutation_p.G2537E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2537					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTCAATTTCCCTCCGTTCAC	0.517000													21	155					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931850	122931850	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:122931850C>T	ENST00000534624.1	-	2	459	c.183G>A	c.(181-183)atG>atA	p.M61I	HSPA8_ENST00000227378.3_Missense_Mutation_p.M61I|HSPA8_ENST00000532636.1_Missense_Mutation_p.M61I|HSPA8_ENST00000453788.2_Missense_Mutation_p.M61I|HSPA8_ENST00000533540.1_Missense_Mutation_p.M61I|HSPA8_ENST00000526110.1_Missense_Mutation_p.M61I	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	61					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGTGGGGTTCATTGCAACTT	0.433000													11	43					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814349	137814349	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:137814349C>T	ENST00000409968.1	+	3	677	c.499C>T	c.(499-501)Cct>Tct	p.P167S	THSD7B_ENST00000543459.1_Missense_Mutation_p.P26S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P136S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P167S					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)		CCTTCAGCCTCCTACAGAACA	0.507000													86	124					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224014	11224014	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11224014G>A	ENST00000558518.1	+	9	1434	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	LDLR_ENST00000545707.1_Missense_Mutation_p.R289Q|LDLR_ENST00000455727.2_Missense_Mutation_p.R248Q|LDLR_ENST00000535915.1_Missense_Mutation_p.R375Q|LDLR_ENST00000558013.1_Missense_Mutation_p.R416Q|LDLR_ENST00000557933.1_Missense_Mutation_p.R416Q	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	416			R -> Q (in FH; German patient).|R -> W (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ACGCTGGACCGGAGCGAGTAC	0.622000													18	68					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696200	111696200	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:111696200G>A	ENST00000435970.1	-	15	3940	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	REV3L_ENST00000368805.1_Missense_Mutation_p.P1120S|REV3L_ENST00000358835.3_Missense_Mutation_p.P1120S|REV3L_ENST00000368802.3_Missense_Mutation_p.P1120S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1120					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GAATTTATGGGACTTGTGCTT	0.438000								DNA polymerases (catalytic subunits)					10	96					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149817	153149817	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:153149817G>A	ENST00000285900.5	+	13	2455	c.2112G>A	c.(2110-2112)atG>atA	p.M704I	GRIA1_ENST00000521843.2_Missense_Mutation_p.M635I|GRIA1_ENST00000448073.4_Missense_Mutation_p.M714I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M714I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M704I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M624I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	704					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGAGGGGATGATTCGAGTGA	0.488000													9	41					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202026	72202026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:72202026G>A	ENST00000555818.1	+	20	5452	c.5104G>A	c.(5104-5106)Gaa>Aaa	p.E1702K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1681K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1681K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E1156K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1702					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCTAGTGATGAAAACCATCG	0.498000													28	184					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63307111	63307111	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:63307111C>T	ENST00000317868.4	+	10	1309	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	ATG4C_ENST00000371120.3_Missense_Mutation_p.P368S	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	368					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTCCACTGCCCTTCTCCCAA	0.303000													6	26					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8467274	8467274	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:8467274C>T	ENST00000389737.4	+	8	1480	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	TRMT44_ENST00000513449.2_Missense_Mutation_p.P253S	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		CCTCAGGATTCCTTCAACCAA	0.498000													10	55					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889747	18889747	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:18889747G>A	ENST00000380548.4	+	25	4982		c.e25+1		ADAMTSL1_ENST00000380545.5_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCTTCTCGGTGAGTGCAGC	0.647000													4	8					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081327	136081327	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:136081327C>T	ENST00000372034.3	-	6	532	c.490_splice	c.e6-1	p.G164_splice	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	164					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		AACGCAGCTTCCTGCAGAGAC	0.617000													20	216					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44521931	44521931	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:44521931C>T	ENST00000372484.3	+	7	1009	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	CTSA_ENST00000372459.2_Missense_Mutation_p.H225Y|CTSA_ENST00000191018.5_Missense_Mutation_p.H225Y|CTSA_ENST00000354880.5_Missense_Mutation_p.H226Y|RP3-337O18.9_ENST00000607703.1_RNA	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	225					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCCTACTACCATGGCCTTCT	0.552000													11	98					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705449	14705449	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14705449G>A	ENST00000547437.1	+	6	393	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CLEC17A_ENST00000417570.1_Missense_Mutation_p.E106K|CLEC17A_ENST00000397439.2_Missense_Mutation_p.E89K	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	106						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CTCAGCAAAGGAAACAGAGAA	0.582000													7	45					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859236	176859236	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:176859236C>T	ENST00000355472.5	+	4	432	c.264C>T	c.(262-264)gcC>gcT	p.A88A	GRK6_ENST00000507633.1_Silent_p.A88A|GRK6_ENST00000355958.5_Silent_p.A88A|GRK6_ENST00000393576.3_Silent_p.A88A|GRK6_ENST00000528793.1_Silent_p.A88A	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	88	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCAGGCCGAGTATGAAG	0.627000													12	104					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424446	151424446	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:151424446G>A	ENST00000370314.4	-	5	593	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GABRA3_ENST00000535043.1_Missense_Mutation_p.R119W|GABRA3_ENST00000370311.1_Missense_Mutation_p.R119W	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	119					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGTCTGCCGAAAAAATACA	0.423000													11	15					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119188292	119188292	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119188292G>A	ENST00000313400.4	-	23	3958	c.3858C>T	c.(3856-3858)atC>atT	p.I1286I	ASTN2_ENST00000373996.3_Silent_p.I1282I|ASTN2_ENST00000288520.5_Silent_p.I387I|ASTN2_ENST00000361477.3_Silent_p.I338I|ASTN2_ENST00000361209.2_Silent_p.I1235I|ASTN2_ENST00000341734.4_Silent_p.I338I			O75129	ASTN2_HUMAN	astrotactin 2	1286						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						CGCGGCTCTGGATGTAGGCAC	0.577000													10	50					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16848076	16848076	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:16848076C>T	ENST00000355661.3	-	10	944	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E312K|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E312K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	312					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCCACATTCGTGACAGGAC	0.572000													23	149					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:65527679C>T	ENST00000310193.3	-	4	1134	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000													9	34					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962824	73962824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:73962824C>T	ENST00000373468.1	-	3	2219	c.1568G>A	c.(1567-1569)tGg>tAg	p.W523*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.W523*			Q5QGS0	K2022_HUMAN	KIAA2022	523					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGGGACACCATTCATCATC	0.393000													6	9					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126128661G>A	ENST00000299308.3	+	6	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	488						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483000													12	81					0	0	1	0	0
AP4S1	11154	broad.mit.edu	37	14	31549843	31549843	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:31549843C>T	ENST00000216366.4	+	5	567	c.359C>T	c.(358-360)cCt>cTt	p.P120L	AP4S1_ENST00000334725.4_Missense_Mutation_p.P120L|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000542754.2_Intron	NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	18						coated pit|Golgi apparatus	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CACTCTGGTCCTTATCAGGTA	0.418000													5	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068247	9068247	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9068247C>T	ENST00000397910.4	-	3	19402	c.19199G>A	c.(19198-19200)aGa>aAa	p.R6400K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6402	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						GAGTTCTGTTCTGGAGACCTC	0.498000													12	50					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	C	T	rs148726153		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:2367371C>T	ENST00000301732.5	-	10	1724	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D342N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	342					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGAGGGGTCGCTGCGGGAC	0.622000													28	125					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880097	82880097	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:82880097C>T	ENST00000298281.4	+	8	3172	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	907	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTGATAATCCCCGAGGTCAG	0.547000													5	48					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635653	122635653	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:122635653G>A	ENST00000249284.2	-	1	101	c.36C>T	c.(34-36)atC>atT	p.I12I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	12					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACATAGATGATCATGAAGA	0.458000													6	46					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149749138	149749138	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:149749138C>T	ENST00000451292.1	+	6	720	c.612C>T	c.(610-612)tcC>tcT	p.S204S	TCOF1_ENST00000504761.2_Silent_p.S204S|TCOF1_ENST00000377797.3_Silent_p.S204S|TCOF1_ENST00000513346.1_Silent_p.S204S|TCOF1_ENST00000445265.2_Silent_p.S204S|TCOF1_ENST00000394269.3_Silent_p.S204S|TCOF1_ENST00000439160.2_Silent_p.S204S|TCOF1_ENST00000323668.7_Silent_p.S204S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	204	Poly-Ser.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACACCTCCAGCTCCAGTG	0.622000													18	67					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435579	18435579	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18435579G>A	ENST00000433979.1	+	2	680	c.564G>A	c.(562-564)ccG>ccA	p.P188P	PIK3C2G_ENST00000538779.1_Silent_p.P188P|PIK3C2G_ENST00000266497.5_Silent_p.P188P|PIK3C2G_ENST00000535651.1_Silent_p.P188P|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	188					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACTTCATGCCGAAAGAAGAGA	0.378000													22	86					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739534	38739534	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38739534T>A	ENST00000449082.2	-	27	5176	c.5177A>T	c.(5176-5178)aAt>aTt	p.N1726I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1726					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)	CGTGGCCACATTGAAGTTCTC	0.502000													34	81					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246734	41246734	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:41246734C>T	ENST00000357654.3	-	10	932	c.814G>A	c.(814-816)Gag>Aag	p.E272K	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E225K|BRCA1_ENST00000346315.3_Missense_Mutation_p.E272K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E272K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E272K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	272					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)		CCACATGGCTCCACATGCAAG	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			12	62					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502721	91502721	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:91502721C>T	ENST00000266718.4	-	2	490	c.36G>A	c.(34-36)ttG>ttA	p.L12L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	12					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACCACCAATCAATGCCAGGA	0.343000													9	36					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677362	219677362	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:219677362G>A	ENST00000258415.4	+	4	1161	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	AGATCCATCGGGTTAATGTTC	0.547000													254	378					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424761	2424761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:2424761G>T	ENST00000333256.6	+	3	1341	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	TSSC4_ENST00000467308.1_3'UTR|TSSC4_ENST00000380996.5_Nonsense_Mutation_p.E236*|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Nonsense_Mutation_p.E300*			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	300										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGCCGGTGGAAACTGTTGG	0.637000													5	44					5.18039e-06	5.21994e-06	1	1	0
OR6Q1	219952	broad.mit.edu	37	11	57799099	57799099	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57799099C>T	ENST00000302622.3	+	1	698	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557000													19	63					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600047	137600047	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:137600047C>T	ENST00000274721.3	-	2	528	c.282G>A	c.(280-282)agG>agA	p.R94R	GFRA3_ENST00000378362.3_Silent_p.R94R	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	94					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAGCTGTTCCTGAGTTGCT	0.597000													19	71					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540140	55540140	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55540140C>T	ENST00000220676.1	+	4	3846	c.3698C>T	c.(3697-3699)tCc>tTc	p.S1233F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1233					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAGGAATCTCCTCTTTGGAT	0.443000													22	94					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119033603	119033603	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119033603G>A	ENST00000328252.3	+	9	3230		c.e9-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCTCTGCAGAGACCAAGGT	0.458000													25	98					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075257	35075257	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:35075257C>T	ENST00000373913.3	+	7	2045	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	DLGAP4_ENST00000401952.2_Missense_Mutation_p.S522L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S522L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S522L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	522					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)				GCAGGCTGCTCGCAGGAGGAG	0.637000													6	25					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169833	49169833	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:49169833C>T	ENST00000307885.4	-	8	2413	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R	ADCY6_ENST00000357869.3_Silent_p.R573R|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Silent_p.R573R	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	573					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGAGTTGGCCCGAGTCCGCT	0.652000													4	22					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539605	55539605	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55539605G>A	ENST00000220676.1	+	4	3311	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1055					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTTACCAGGAAATAAACCT	0.378000													14	69					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109268482	109268482	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:109268482G>A	ENST00000370017.3	+	6	1244	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FNDC7_ENST00000271311.2_Missense_Mutation_p.D324N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	324	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGTGAAGAGTGATGATGGCTT	0.453000													23	134					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128461	103128461	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:103128461G>A	ENST00000375735.2	+	69	10730	c.10586G>A	c.(10585-10587)cGa>cAa	p.R3529Q	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3536Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3529					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTTTCCAACGAGCTCTACAA	0.363000													3	12					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325478	31325478	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:31325478T>C	ENST00000269197.5	+	12	5666	c.5666T>C	c.(5665-5667)gTt>gCt	p.V1889A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1889					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						AACAGAATTGTTCACAGCCCT	0.512000													55	215					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417586	69417586	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69417586G>A	ENST00000317746.2	-	4	1091	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	350					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCGAGTATTGGAACCTAAAGT	0.353000													11	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999545	8999545	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8999545C>T	ENST00000397910.4	-	56	40833	c.40630G>A	c.(40630-40632)Gcc>Acc	p.A13544T	MUC16_ENST00000380951.5_Missense_Mutation_p.A185T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13546	SEA 10.			Missing (in Ref. 3; AAK74120).	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						ACTTTGGTGGCTGCCCCATCC	0.592000													18	68					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94473802	94473802	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94473802G>A	ENST00000370225.3	-	42	5973	c.5887C>T	c.(5887-5889)Cgc>Tgc	p.R1963C	ABCA4_ENST00000536513.1_Missense_Mutation_p.R233C|ABCA4_ENST00000535881.1_Missense_Mutation_p.R82C|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1963	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCCAGGGCGAACTCCGACA	0.547000													8	63					0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576474	149576474	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149576474C>T	ENST00000421974.2	+	3	1301	c.350C>T	c.(349-351)tCg>tTg	p.S117L	ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.S68L|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.S91L|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000425642.2_3'UTR	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	63					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			ACAACCCCTTCGTCCGGACCC	0.622000													6	40					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854888	4854888	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:4854888G>A	ENST00000354582.6	+	56	7836	c.7486G>A	c.(7486-7488)Gag>Aag	p.E2496K	ITPR1_ENST00000443694.2_Missense_Mutation_p.E2496K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2463K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2496K|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2448K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2463K|ITPR1_ENST00000544951.1_Missense_Mutation_p.E474K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2511	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGAGTGGGGAGAACTGCTC	0.512000													26	164					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633356	8633356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8633356C>T	ENST00000381196.4	-	11	856	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PTPRD_ENST00000397611.3_Missense_Mutation_p.G105R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G105R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G105R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G105R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G105R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G105R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G105R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G105R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G105R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G105R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G105R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	105	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTATTTCTCCCACATTATTT	0.428000										TSP Lung(15;0.13)			11	62					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976074	120976074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:120976074C>T	ENST00000273666.6	+	17	1997	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	576					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACAAGTCCTCCGTTTCCAGA	0.388000													26	91					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210647	134210647	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:134210647A>C	ENST00000367882.4	+	1	372	c.112A>C	c.(112-114)Acc>Ccc	p.T38P	TCF21_ENST00000237316.3_Missense_Mutation_p.T38P|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	38					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CAACGAGAGCACCGAGGAGAG	0.587000													12	72					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793753	52793753	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52793753C>T	ENST00000439461.1	+	4	752	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	ZNF766_ENST00000359102.4_Missense_Mutation_p.R252C|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Missense_Mutation_p.R252C	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTGGAGAATTCGTACAGGAGA	0.438000													16	26					0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231663609	231663609	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:231663609C>T	ENST00000258418.5	+	5	993	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CAB39_ENST00000409788.3_Silent_p.F188F|CAB39_ENST00000410084.3_Silent_p.F188F	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	188					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTGCCACATTCAAGGTAACAA	0.378000													4	13					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80057441	80057441	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:80057441C>T	ENST00000265081.6	+	13	1920	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	614					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GATAGAAAATCATCTACGTAA	0.388000								Mismatch excision repair (MMR)					15	60					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347158	57347158	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57347158G>A	ENST00000361249.3	+	5	601	c.505G>A	c.(505-507)Gat>Aat	p.D169N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	169	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGTGTGTACGATGCCAGTTA	0.473000													12	64					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493505	150493505	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150493505C>T	ENST00000447204.2	-	2	525	c.153G>A	c.(151-153)ggG>ggA	p.G51G	TMEM176B_ENST00000434545.1_Silent_p.G51G|TMEM176B_ENST00000429904.2_Silent_p.G51G|TMEM176B_ENST00000326442.5_Silent_p.G51G|TMEM176B_ENST00000492607.1_Silent_p.G51G|TMEM176B_ENST00000450753.2_Silent_p.G51G	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	51					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACAGTGTCCCCAGGGTGAA	0.562000													15	78					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978119	10978119	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10978119A>G	ENST00000240619.2	-	1	838	c.750T>C	c.(748-750)ttT>ttC	p.F250F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	250					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCGCACAGTAAAACATGATA	0.383000													14	56					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150519721	150519721	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:150519721C>T	ENST00000354546.5	-	3	329	c.102G>A	c.(100-102)aaG>aaA	p.K34K	ANXA6_ENST00000523714.1_Silent_p.K2K|ANXA6_ENST00000377751.5_Silent_p.K34K|ANXA6_ENST00000521512.1_Silent_p.K34K|ANXA6_ENST00000356496.5_Silent_p.K34K	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	34						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			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)			CACCAAAGCCCTTCATGGCAG	0.567000													11	37					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092587	101092587	+	Missense_Mutation	SNP	C	C	T	rs113591248	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:101092587C>T	ENST00000537026.1	-	15	1318	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	NXF5_ENST00000473265.2_Missense_Mutation_p.R320Q|NXF5_ENST00000361708.2_Missense_Mutation_p.R320Q	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	320	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GTCCACGTTTCGTGGACATTT	0.537000													23	47					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53741397	53741397	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:53741397G>A	ENST00000306052.6	-	6	1013	c.912C>T	c.(910-912)ttC>ttT	p.F304F	LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.F304F|LRP8_ENST00000354412.3_Silent_p.F175F	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	304	LDL-receptor class A 7.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCCACACTGGAACTCGTCCC	0.592000													8	46					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27282763	27282763	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:27282763G>A	ENST00000496902.4	+	1	600	c.114G>A	c.(112-114)ccG>ccA	p.P38P	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Silent_p.P38P			P49640	EVX1_HUMAN	even-skipped homeobox 1	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TGCCGGAGCCGCCCGAGAAAA	0.672000													9	14					0	0	1	0	0
FXN	2395	broad.mit.edu	37	9	71668065	71668065	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:71668065T>C	ENST00000377270.3	+	3	797	c.273T>C	c.(271-273)gaT>gaC	p.D91D	FXN_ENST00000396364.3_Silent_p.D91D|FXN_ENST00000498653.1_Silent_p.D16D|FXN_ENST00000396366.2_Silent_p.D91D	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	91					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						GCTCTCTAGATGAGACCACCT	0.363000													5	46					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166243485	166243485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:166243485G>A	ENST00000357398.3	+	26	5071	c.4781G>A	c.(4780-4782)tGg>tAg	p.W1594*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1594*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.W1594*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1594*			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1594					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTATTGGATGGAATATTTTT	0.333000													20	55					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482880	20482880	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20482880G>A	ENST00000573854.1	+	6	877	c.763G>A	c.(763-765)Gat>Aat	p.D255N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.D255N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D176N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D255N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D255N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D27N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	255					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAAGCCTCTGATATAATGTG	0.458000													32	110					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847920	16847920	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:16847920G>A	ENST00000355661.3	-	10	1100	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P364S|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P364S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	364					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCGAGTACGGAGACCTGGCC	0.602000													7	66					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606323	37606323	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:37606323C>T	ENST00000434837.2	-	15	3835	c.2657G>A	c.(2656-2658)gGg>gAg	p.G886E	MDGA1_ENST00000297153.7_Missense_Mutation_p.G890E|MDGA1_ENST00000505425.1_Missense_Mutation_p.G886E	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	886	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGAAGGGCCCACTGGGGCT	0.622000													17	86					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140038606	140038606	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140038606G>A	ENST00000417647.2	+	12	1172	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	345	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tcgggaacgggagcgtgatcg	0.542000													8	62					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98445848G>A	ENST00000416379.2	-	8	1143	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_ENST00000450876.1_Intron|TMEM130_ENST00000546258.1_Intron|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000339375.4_Intron			Q8N3G9	TM130_HUMAN	transmembrane protein 130	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000													21	27					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115585262	115585262	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115585262C>T	ENST00000310836.6	+	3	1456	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	UGT8_ENST00000394511.3_Silent_p.L312L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	312					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGCAGGAGCTCTGGGGAGATT	0.413000													19	48					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250200	158250200	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:158250200G>A	ENST00000313708.6	-	8	1044	c.762C>T	c.(760-762)ccC>ccT	p.P254P	EBF1_ENST00000380654.4_Intron|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	254					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGATAAGAGGGCGTACCTT	0.468000			T	HMGA2	lipoma								5	35					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400951	43400951	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:43400951C>T	ENST00000244533.3	+	1	1463	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.T411T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	411	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCCATCACCCTCTACCTGC	0.592000													9	46					0	0	1	0	0
TMEM53	79639	broad.mit.edu	37	1	45120617	45120617	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:45120617T>C	ENST00000372237.3	-	3	611	c.448A>G	c.(448-450)Aac>Gac	p.N150D	TMEM53_ENST00000372235.3_Missense_Mutation_p.N120D|TMEM53_ENST00000372242.3_Missense_Mutation_p.N150D|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	150						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CCTACCAGGTTGCTGTCACCA	0.672000													6	26					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640376	57640376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57640376G>A	ENST00000254181.4	+	4	787	c.333G>A	c.(331-333)atG>atA	p.M111I	USP29_ENST00000598197.1_Missense_Mutation_p.M111I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	111					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAACCCATGAAATCTGATG	0.353000													9	63					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129240644	129240644	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:129240644G>A	ENST00000305031.4	+	1	480	c.122G>A	c.(121-123)gGc>gAc	p.G41D	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	41						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGAGACGTGGCTCCAGCCTC	0.711000													4	8					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28926106	28926106	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28926106G>A	ENST00000257192.4	+	14	2257	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.R41K|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	682					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)			AATTCTATGAGGGAATGTAGA	0.423000													11	69					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172182	21172182	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:21172182G>A	ENST00000421593.2	+	2	86	c.85_splice	c.e2-1	p.G29_splice	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTCTTTCTAGGAAATTTGTTT	0.333000													4	15					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829329	101829329	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:101829329C>T	ENST00000375001.3	+	40	4240	c.3817C>T	c.(3817-3819)Ctt>Ttt	p.L1273F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1273	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGATACAGCCTTCCCATAGT	0.483000													12	83					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596472	58596472	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58596472C>T	ENST00000240727.6	-	7	1512	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	ZSCAN18_ENST00000421612.2_Silent_p.R235R|ZSCAN18_ENST00000601144.1_Silent_p.R371R|ZSCAN18_ENST00000600404.1_Silent_p.R427R	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGGTGCGGCCTCTTGGTTC	0.721000													9	21					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884687	228884687	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:228884687C>T	ENST00000392056.3	-	7	929	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A295T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	295						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGCAAGGCTGTGTTCTTT	0.418000													38	217					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81411177	81411177	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:81411177C>T	ENST00000248272.3	+	11	1932	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	590					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AAGGCTTATTCCGTATTCGTG	0.527000													33	129					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060749	189060749	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:189060749G>A	ENST00000332517.3	+	1	177	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	13					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTCAGGGAGGAACTCACCTG	0.522000													34	139					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128327434	128327434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:128327434C>T	ENST00000389524.4	+	6	594	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	MYO7B_ENST00000409816.2_Nonsense_Mutation_p.Q181*|MYO7B_ENST00000428314.1_Nonsense_Mutation_p.Q181*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	181	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCAGTGGCCAGCATTCGTG	0.627000													22	20					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493504	150493504	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150493504C>A	ENST00000447204.2	-	2	526	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	TMEM176B_ENST00000434545.1_Missense_Mutation_p.D52Y|TMEM176B_ENST00000429904.2_Missense_Mutation_p.D52Y|TMEM176B_ENST00000326442.5_Missense_Mutation_p.D52Y|TMEM176B_ENST00000492607.1_Missense_Mutation_p.D52Y|TMEM176B_ENST00000450753.2_Missense_Mutation_p.D52Y	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	52					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACAGTGTCCCCAGGGTGA	0.562000													15	78					1.67942e-08	1.69622e-08	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124274641	124274641	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124274641G>A	ENST00000409039.3	+	11	1630	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	535	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAATATGTGATGGATGAAT	0.458000													43	161					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954806	72954806	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72954806G>A	ENST00000425042.2	-	10	1279	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L		NM_030630.2	NP_085133.1			HID1 domain containing																		GAAGAGGATGGGGACAAGGAT	0.622000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	63					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103244878	103244878	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103244878C>T	ENST00000428762.1	-	23	3220	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	RELN_ENST00000343529.5_Missense_Mutation_p.E1021K|RELN_ENST00000424685.2_Missense_Mutation_p.E1021K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1021					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGCCCACTCGTCTTGAGCT	0.502000													11	75					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341178	8341178	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8341178G>A	ENST00000381196.4	-	38	5581	c.5038C>T	c.(5038-5040)Cca>Tca	p.P1680S	PTPRD_ENST00000397611.3_Missense_Mutation_p.P1270S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1680S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1658S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1270S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1273S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1680S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1274S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1273S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1273S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1667S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1680	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393000										TSP Lung(15;0.13)			18	118					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073951	5073951	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:5073951G>A	ENST00000574788.1	+	36	5925	c.3695G>A	c.(3694-3696)gGg>gAg	p.G1232E	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.G1232E|USP6_ENST00000304328.5_Missense_Mutation_p.G915E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1232					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						AAAGAGAATGGGGCTGGGCAG	0.577000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	34					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726636	63726636	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:63726636G>A	ENST00000421025.1	+	5	894	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E209K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	209					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						TCATACTAGGGAGAATTCCTA	0.358000													5	10					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824854	124824854	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124824854G>A	ENST00000356219.3	-	37	5650	c.5495C>T	c.(5494-5496)cCc>cTc	p.P1832L	NCOR2_ENST00000404121.2_Missense_Mutation_p.P1386L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1815L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1825L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1815L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1816L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1833					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCCAGATGGGTGCGTGCTC	0.677000													10	23					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43088980	43088980	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:43088980G>A	ENST00000401850.1	-	2	1467	c.978C>T	c.(976-978)ttC>ttT	p.F326F	A4GALT_ENST00000381278.3_Silent_p.F326F|A4GALT_ENST00000249005.2_Silent_p.F326F			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	326					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						ACGTGGCCTCGAACCGCGTGC	0.627000													13	41					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181783	57181783	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:57181783C>T	ENST00000504228.1	+	6	2220	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	KIAA1211_ENST00000541073.1_Silent_p.S698S|KIAA1211_ENST00000264229.6_Silent_p.S705S			Q6ZU35	K1211_HUMAN	KIAA1211	705										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGTGTGATTCCCGCGGGAACC	0.582000													29	106					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871823	35871823	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:35871823T>C	ENST00000216797.5	-	5	784	c.683A>G	c.(682-684)cAa>cGa	p.Q228R	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.Q138R|NFKBIA_ENST00000557140.1_Intron	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	228					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GTCAGGATTTTGCAGGTCCAC	0.532000													26	83					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538601	55538601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55538601C>T	ENST00000220676.1	+	4	2307	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	720					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGATAGTCCCCTTAAAGGA	0.348000													8	42					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68905282	68905282	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:68905282G>A	ENST00000262340.5	-	7	740	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	229					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CACTGCAGGGGAATTGTACAA	0.373000													8	60					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139277730	139277730	+	Missense_Mutation	SNP	G	G	A	rs148400916		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139277730G>A	ENST00000298532.2	-	15	2259	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	631					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCCTGGCAGGGACCTGCACC	0.716000													5	27					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850087	73850087	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:73850087T>C	ENST00000523207.1	+	3	3085	c.2497T>C	c.(2497-2499)Tgc>Cgc	p.C833R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGCCCAAATTGCTTTGCAGA	0.532000													22	72					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66000511	66000511	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66000511C>T	ENST00000320580.4	+	15	1845	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S	PACS1_ENST00000529757.1_Silent_p.S140S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	604					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCGTGCTGTCCGCCCTGCTCA	0.617000													33	149					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28610022	28610022	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:28610022G>A	ENST00000357727.2	+	5	721	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	CREB5_ENST00000409603.1_Missense_Mutation_p.G78R|CREB5_ENST00000396300.2_Missense_Mutation_p.G104R|CREB5_ENST00000396299.2_Missense_Mutation_p.G78R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	111					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGCCATGACGGGGCCCGGAAC	0.537000													13	106					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50760612	50760612	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50760612G>A	ENST00000440075.2	+	18	2148	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	MYH14_ENST00000601313.1_Missense_Mutation_p.G701S|MYH14_ENST00000598205.1_Missense_Mutation_p.G668S|MYH14_ENST00000596571.1_Missense_Mutation_p.G660S|MYH14_ENST00000425460.1_Missense_Mutation_p.G668S|MYH14_ENST00000376970.2_Missense_Mutation_p.G693S|MYH14_ENST00000262269.8_Missense_Mutation_p.G701S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	660	Myosin head-like.				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)		CCCACCAGGTGGCCGCCCCCG	0.627000													4	15					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52568562	52568562	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:52568562G>A	ENST00000307076.4	-	1	508	c.108C>T	c.(106-108)aaC>aaT	p.N36N	SMIM4_ENST00000482728.1_3'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	36							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCAACTCCCGGTTTCCCGGCG	0.627000													42	120					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:86373294C>T	ENST00000604798.1	-	8	2414	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404N			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	404					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328000													5	34					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37955927	37955927	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:37955927C>T	ENST00000377707.3	-	4	1744	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	393	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTCCTAGGATCCCGCAGAACT	0.592000													3	28					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34783264	34783264	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:34783264C>T	ENST00000338074.2	+	13	1624	c.1463C>T	c.(1462-1464)aCc>aTc	p.T488I	EPB41L1_ENST00000373941.1_Missense_Mutation_p.T488I|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000441639.1_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	488	Spectrin--actin-binding.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGCAGGAAACCACGCCGAGA	0.567000													14	76					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271732	22271732	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:22271732C>T	ENST00000594947.1	+	4	1324	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363000													6	15					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7724654	7724654	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7724654G>A	ENST00000572933.1	+	73	12569	c.11109G>A	c.(11107-11109)atG>atA	p.M3703I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M3703I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3703					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCAACATGGATGAATACA	0.498000													8	41					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13771045	13771045	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13771045C>T	ENST00000265104.4	-	56	9522	c.9418G>A	c.(9418-9420)Gaa>Aaa	p.E3140K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3140	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)					TTCTTGATTTCCAAACTGCAG	0.423000									Kartagener syndrome				8	46					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38820524	38820524	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:38820524G>A	ENST00000359357.3	+	38	5124	c.4870G>A	c.(4870-4872)Gac>Aac	p.D1624N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1841N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1624N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATGCAAAAGACTATGATCG	0.368000													9	59					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263654	70263654	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70263654G>A	ENST00000216540.4	-	1	352	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	73					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGGCCGTGAGGGGCATGATGC	0.577000													13	53					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827881	40827881	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:40827881G>A	ENST00000373198.3	-	17	2791	c.2557_splice	c.e17+1	p.F852_splice	PTPRT_ENST00000356100.2_Splice_Site_p.F839_splice|PTPRT_ENST00000373187.1_Splice_Site_p.F830_splice|PTPRT_ENST00000373190.1_Splice_Site_p.F830_splice|PTPRT_ENST00000373193.3_Splice_Site_p.F833_splice|PTPRT_ENST00000373184.1_Splice_Site_p.F820_splice|PTPRT_ENST00000373201.1_Splice_Site_p.F820_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	830					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACTTACTGAATCCGTTGA	0.562000													120	570					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28710546C>T	ENST00000257198.5	-	16	2877	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423000													18	89					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117876	20117876	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:20117876G>A	ENST00000397165.2	-	4	595	c.435C>T	c.(433-435)ttC>ttT	p.F145F	ZNF682_ENST00000597972.1_Silent_p.F151F|ZNF682_ENST00000397162.1_Silent_p.F113F|ZNF682_ENST00000358523.5_Silent_p.F113F|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Silent_p.F69F	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATTATATGGGAAAATTTTGC	0.308000													11	45					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326534	158326534	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158326534C>T	ENST00000444681.2	+	5	1011	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.L339F|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.L249F|CD1E_ENST00000368154.1_Missense_Mutation_p.L95F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.L150F|CD1E_ENST00000368157.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	339	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TAAGAACATTCTTTCTCCCCA	0.413000													17	90					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418978	43418978	+	Missense_Mutation	SNP	C	C	T	rs142658388		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:43418978C>T	ENST00000357338.3	-	6	1151	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DLK2_ENST00000372488.3_Missense_Mutation_p.D151N|DLK2_ENST00000414245.1_Missense_Mutation_p.D145N|DLK2_ENST00000372485.1_Missense_Mutation_p.D145N	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	151	EGF-like 4.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGCCCTGGTCGTCCTGGCAC	0.597000													10	55					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940120	68940120	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:68940120G>A	ENST00000433211.1	-	7	1176	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	CTNNA3_ENST00000545309.1_Silent_p.A334A|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.A334A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	334					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						CCTGGCGAATGGCGTTGCATT	0.512000													13	37					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32217568	32217568	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:32217568C>T	ENST00000346541.3	+	9	1640	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.S368F|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.S378F|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.S339F|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.S359F	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	368						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ACAAGGCGCTCTATGGCAGTT	0.483000													29	104					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468540	61468540	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:61468540C>T	ENST00000343916.3	+	30	1712	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	570	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCCCAGGCTCCATTGGTCAC	0.682000													20	96					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12933942	12933942	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:12933942G>A	ENST00000379348.2	+	4	505	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCTTGGGCTCGAACTGTGTTC	0.532000													13	66					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541035	72541035	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72541035G>A	ENST00000330793.1	-	2	473	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	38	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.S38F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CACACTCAGGGATCCCCCCAC	0.547000													15	76					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108562653	108562653	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108562653C>T	ENST00000526794.1	+	8	1058	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	DDX10_ENST00000322536.3_Silent_p.I342I			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	342	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGTTTCTATCCTTGCACTCC	0.458000			T	NUP98	AML*								27	81					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557326	29557326	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:29557326G>A	ENST00000358273.4	+	23	3422	c.3039G>A	c.(3037-3039)acG>acA	p.T1013T	NF1_ENST00000356175.3_Silent_p.T1013T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1013					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	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)		AAATAAAAACGAAACTGTGTC	0.338000			"""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)			11	34					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97057618	97057618	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:97057618G>A	ENST00000524981.3	+	6	824	c.824G>A	c.(823-825)cGa>cAa	p.R275Q				Q6ZTY8	CL063_HUMAN		249								p.R249Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAACTTGCCGAAATTTCATT	0.308000													6	37					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070080	103070080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:103070080G>A	ENST00000375735.2	+	49	8107	c.7963G>A	c.(7963-7965)Gga>Aga	p.G2655R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2655R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2655	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTATTAGCAGGACGCAGTGG	0.433000													10	26					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382829	79382829	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:79382829C>T	ENST00000419573.3	-	1	286	c.12G>A	c.(10-12)ggG>ggA	p.G4G	RASGRF1_ENST00000558480.2_Silent_p.G4G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	4					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCAGCCGGATCCCCTTCTGCA	0.662000													50	259					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377400	18377400	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:18377400G>A	ENST00000392413.3	-	3	1165	c.950C>T	c.(949-951)cCt>cTt	p.P317L	KIAA1683_ENST00000600359.2_Missense_Mutation_p.P271L|KIAA1683_ENST00000600328.2_Missense_Mutation_p.P317L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	317						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCTTTCACAGGGCCCTGGGT	0.572000													11	96					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33487839	33487839	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:33487839C>T	ENST00000404816.2	+	14	2822	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	LTBP1_ENST00000404525.1_Silent_p.P444P|LTBP1_ENST00000418533.2_Silent_p.P497P|LTBP1_ENST00000402934.1_Silent_p.P444P|LTBP1_ENST00000354476.3_Silent_p.P823P|LTBP1_ENST00000407925.1_Silent_p.P497P|LTBP1_ENST00000390003.4_Silent_p.P497P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	823					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)				CTGGTCAACCCCAGCTGTCTC	0.383000													38	36					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451785	110451785	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:110451785C>T	ENST00000260283.4	-	16	2169	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E172K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E603K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E593K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E593K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E603K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E606K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	629					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTTCCACCTCGGGCTGGTCA	0.478000													14	77					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459605	105459605	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:105459605C>T	ENST00000351513.2	-	3	682	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	184					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTCCAATTTCCTTGCACCGA	0.443000													10	50					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972562	40972562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:40972562C>T	ENST00000313164.9	+	15	2299	c.1940C>T	c.(1939-1941)cCt>cTt	p.P647L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	647	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCCCAAAAACCTTTCTACACA	0.453000													7	44					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130146	62130146	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62130146C>T	ENST00000433197.2	-	17	2342	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	749	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACAGGGTTCTCCTTACAGT	0.527000													6	36					0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022671	34022671	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:34022671C>T	ENST00000374375.1	+	2	1157	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	GDF5_ENST00000374372.1_Intron|GDF5_ENST00000374369.3_Intron																cervix(1)|endometrium(4)|lung(4)	9						AGCTCTCTCCCCGTCCAGAGA	0.542000													7	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075392	9075392	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9075392C>T	ENST00000397910.4	-	3	12257	c.12054G>A	c.(12052-12054)agG>agA	p.R4018R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4020	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						GGCTGACGTCCCTCAGTTCAA	0.473000													10	50					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220170408	220170408	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:220170408T>G	ENST00000366923.3	-	18	2727	c.2458A>C	c.(2458-2460)Att>Ctt	p.I820L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	820	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTTCCAGAATACTTGCTGAG	0.393000													12	69					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378895	135378895	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:135378895C>T	ENST00000354042.4	-	10	1797	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	370						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTAATGTCTCCCAGTTTTTCA	0.458000													11	88					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037365	220037365	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:220037365A>G	ENST00000409789.1	-	9	1603	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	CNPPD1_ENST00000360507.5_Silent_p.C392C			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	392					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TGAAAAGGGAACATTGCTGAG	0.572000													25	116					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52646152	52646152	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:52646152C>T	ENST00000355568.4	-	21	1991	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	618							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CATTCATATTCCTTAAACTTC	0.343000													5	18					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124839	86124839	+	Missense_Mutation	SNP	C	C	G	rs145657332		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:86124839C>G	ENST00000394518.2	+	7	3635	c.3540C>G	c.(3538-3540)gaC>gaG	p.D1180E	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1180E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1180					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCAAATAGACGATGAAGCAC	0.567000													11	39					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65445369	65445369	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:65445369G>A	ENST00000304895.4	-	2	368	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	GUSB_ENST00000421103.1_Missense_Mutation_p.P80S|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.P80S	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	80					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGCTGGAGGGAACTGGCATG	0.627000													7	38					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081049	54081049	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:54081049G>T	ENST00000253144.9	+	7	2568	c.1235G>T	c.(1234-1236)gGg>gTg	p.G412V	ZNF331_ENST00000411977.2_Missense_Mutation_p.G412V|ZNF331_ENST00000449416.1_Missense_Mutation_p.G412V|ZNF331_ENST00000513999.1_Missense_Mutation_p.G412V|ZNF331_ENST00000512387.1_Missense_Mutation_p.G412V|ZNF331_ENST00000511593.2_Missense_Mutation_p.G412V|ZNF331_ENST00000511154.1_Missense_Mutation_p.G412V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAACCCTATGGGTGTACAGAA	0.488000			T	?	follicular thyroid adenoma								7	40					5.18039e-06	5.21994e-06	1	1	0
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463000													10	60					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725074	158725074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158725074C>T	ENST00000368144.2	+	1	565	c.469C>T	c.(469-471)Cca>Tca	p.P157S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCTGCAATCCACTCCGTTA	0.478000													17	78					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36587934	36587934	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:36587934C>T	ENST00000401500.2	+	21	2508	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	WDR62_ENST00000270301.7_Missense_Mutation_p.R825C	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	825					cerebral cortex development	nucleus		p.R825C(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGATCCTCGTTGCCTGCT	0.552000													7	30					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	694832	694832	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:694832G>A	ENST00000304478.4	+	4	892	c.786G>A	c.(784-786)cgG>cgA	p.R262R		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	262					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CACATTTCCGGATGCCCATTA	0.512000													15	77					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267137	107267137	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:107267137C>T	ENST00000334726.2	+	1	683	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAGTTAATCATGCTGGTGA	0.438000													38	171					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420258	88420258	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:88420258C>T	ENST00000394480.1	-	19	2707	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	NTRK3_ENST00000357724.2_Missense_Mutation_p.E802K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E810K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E796K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E788K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	810	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGTGGTTCCCTCTGCCAG	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	81					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163659	71163659	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:71163659C>T	ENST00000393567.2	-	9	1261	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	HYDIN_ENST00000448089.2_Missense_Mutation_p.D371N|HYDIN_ENST00000448691.1_Missense_Mutation_p.D371N|HYDIN_ENST00000538248.1_Missense_Mutation_p.D398N|HYDIN_ENST00000541601.1_Missense_Mutation_p.D388N|HYDIN_ENST00000321489.5_Missense_Mutation_p.D371N|HYDIN_ENST00000288168.10_Missense_Mutation_p.D388N|HYDIN_ENST00000393550.2_Missense_Mutation_p.D371N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	371										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTAAAGGATCAGTAATGCAC	0.443000													4	22					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057395	9057395	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:9057395C>T	ENST00000383836.3	-	15	2126	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D543N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	567	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCATTTTGATCGTCCACAAGG	0.443000			T	RAF1	pilocytic astrocytoma								17	63					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769559	3769559	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:3769559G>T	ENST00000330055.5	+	1	1435	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	409					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCATCTGCCGCGAGGCCTGC	0.597000													3	25					0.004672	0.00468839	1	1	0
FREM1	158326	broad.mit.edu	37	9	14750162	14750162	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:14750162C>T	ENST00000380881.4	-	31	6338	c.5523G>A	c.(5521-5523)aaG>aaA	p.K1841K	FREM1_ENST00000380894.1_Silent_p.K376K|FREM1_ENST00000380880.3_Silent_p.K1840K|FREM1_ENST00000422223.2_Silent_p.K1840K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1840					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCTTTTGTCTTTGTGCCAA	0.423000													27	93					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924301	227924301	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:227924301C>T	ENST00000396625.3	-	28	2410	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E735K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	735	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCCTTTTCACCTCCAAAA	0.483000													39	68					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514297	156514297	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:156514297G>A	ENST00000307851.4	-	7	1452	c.722C>T	c.(721-723)tCt>tTt	p.S241F	HAVCR2_ENST00000522593.1_Missense_Mutation_p.S213F	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	241						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGCCAAAGAGATGAGGCT	0.443000													8	48					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102112964	102112964	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:102112964G>A	ENST00000292616.5	+	13	1750	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	533					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGGGGGGGCCGGGGCAGCCAG	0.701000													3	13					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9921728	9921728	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9921728G>A	ENST00000247977.4	-	3	1066	c.825C>T	c.(823-825)ctC>ctT	p.L275L	FBXL12_ENST00000585379.1_Silent_p.L222L|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.L222L|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	275							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCAGGAGGAGAGGATTTCAG	0.652000													6	27					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2755204	2755204	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:2755204G>A	ENST00000397835.4	+	3	395	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	0						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GATTTCCTGCGAGGCCGAGCG	0.632000													20	84					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831326	131831326	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131831326C>T	ENST00000359827.3	-	28	5960	c.4998G>A	c.(4996-4998)ggG>ggA	p.G1666G	PLXNA4_ENST00000321063.4_Silent_p.G1666G			Q9HCM2	PLXA4_HUMAN	plexin A4	1666						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						TCCCCCGGTCCCCCTCCTTCT	0.577000													70	416					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1123971	1123971	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:1123971G>A	ENST00000361757.3	-	6	729	c.492C>T	c.(490-492)tcC>tcT	p.S164S	SBNO2_ENST00000587024.1_Silent_p.S164S|SBNO2_ENST00000438103.2_Silent_p.S107S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	164					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCTGTGGGAGGGCAGAA	0.652000													18	29					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447648	96447648	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96447648G>A	ENST00000285979.6	+	2	489	c.290G>A	c.(289-291)aGa>aAa	p.R97K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R97K	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTTTCTGGAAGAGGAAGTTTT	0.443000													14	80					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37631466	37631466	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:37631466C>T	ENST00000252011.3	+	10	840	c.807C>T	c.(805-807)caC>caT	p.H269H	DHX35_ENST00000373325.2_Silent_p.H269H|DHX35_ENST00000373323.4_Silent_p.H238H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	269	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGAAAATTCACCAGACAGAGG	0.388000													17	84					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149543252	149543252	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149543252C>T	ENST00000223210.4	+	3	394	c.149C>T	c.(148-150)gCc>gTc	p.A50V		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	50	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCAACTGTTGCCAATCCTGAG	0.547000													5	39					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:30365209G>A	ENST00000389194.2	-	1	61	c.56C>T	c.(55-57)tCt>tTt	p.S19F	LTN1_ENST00000389195.2_Missense_Mutation_p.S19F|LTN1_ENST00000361371.4_5'UTR			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000													6	10					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318367	30318367	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:30318367G>A	ENST00000375377.1	-	3	811	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	237										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCTCGGGGGAAAGAACTCT	0.463000													25	136					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794832	42794832	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:42794832G>A	ENST00000572681.2	+	11	4707	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	CIC_ENST00000160740.3_Missense_Mutation_p.E638K|CIC_ENST00000575354.2_Missense_Mutation_p.E638K			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	638	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E638K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAAACAAGGAGGAGCAAGA	0.692000			"""Mis, F, S"""		oligodendroglioma								9	43					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499897	1499897	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:1499897C>T	ENST00000345913.4	+	12	2234	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.P542S|TPO_ENST00000382201.3_Missense_Mutation_p.P658S|TPO_ENST00000349624.3_Missense_Mutation_p.P542S|TPO_ENST00000346956.3_Missense_Mutation_p.P715S|TPO_ENST00000337415.3_Missense_Mutation_p.P715S|TPO_ENST00000329066.4_Missense_Mutation_p.P715S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	715					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)	CGGCAAATTCCCCGAAGACTT	0.562000													9	28					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754865	5754865	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:5754865G>C	ENST00000414202.2	+	15	1818	c.1627G>C	c.(1627-1629)Ggc>Cgc	p.G543R	KIAA1432_ENST00000418622.3_Missense_Mutation_p.G464R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G543R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G427R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G464R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	543						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CGTGACAGGTGGCTTAGCCTG	0.279000													20	77					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967602	142967602	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:142967602G>A	ENST00000370494.1	+	1	430	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	134							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACCAACGAAGCCCAAGC	0.438000													31	71					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108247175	108247175	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:108247175C>T	ENST00000370056.4	-	17	1976	c.1702G>A	c.(1702-1704)Ggt>Agt	p.G568S	VAV3_ENST00000527011.1_Missense_Mutation_p.G568S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.G503S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	568					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)		GACTTACCACCAGAATTAACT	0.338000													10	47					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239211	170239211	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:170239211G>A	ENST00000518525.1	+	11	1736	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Silent_p.L424L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	424						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTTTCCTTTGATTTTTATGC	0.348000													9	51					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810784	117810784	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:117810784G>A	ENST00000350763.4	-	16	5018	c.4607C>T	c.(4606-4608)aCc>aTc	p.T1536I	TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.T1172I|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1536	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCGGAAATGGTTAGGTTTTC	0.493000													6	32					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22159011	22159011	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:22159011G>A	ENST00000374695.3	-	81	11263	c.11184C>T	c.(11182-11184)ctC>ctT	p.L3728L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3728	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTCCCCCCACGAGGCCGAAGG	0.662000													23	97					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964272	148964272	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148964272G>A	ENST00000434415.1	+	4	795	c.632G>A	c.(631-633)gGg>gAg	p.G211E		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	211					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CAGGAGAAGGGGAATGAAGTA	0.572000													6	39					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603641	111603641	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:111603641G>A	ENST00000431670.2	+	2	1128	c.717G>A	c.(715-717)agG>agA	p.R239R	PHLDB2_ENST00000393923.3_Silent_p.R266R|PHLDB2_ENST00000477695.1_Silent_p.R239R|PHLDB2_ENST00000393925.3_Silent_p.R239R|PHLDB2_ENST00000481953.1_Silent_p.R239R|PHLDB2_ENST00000412622.1_Silent_p.R239R|PHLDB2_ENST00000478922.1_Silent_p.R239R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	239						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGAGAACTAGGAAGTACTCCA	0.507000													9	74					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558797	1558797	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:1558797C>T	ENST00000357210.4	+	3	355	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MIB2_ENST00000505820.2_Missense_Mutation_p.P104S|MIB2_ENST00000504599.1_Missense_Mutation_p.P3S|MIB2_ENST00000520777.1_Missense_Mutation_p.P104S|MIB2_ENST00000518681.1_Missense_Mutation_p.P104S|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.P47S|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378710.3_Missense_Mutation_p.P47S	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	47					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCATGGACCCCTCTGCCCA	0.706000													3	16					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802338	11802338	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:11802338G>A	ENST00000306928.5	-	2	687	c.653C>T	c.(652-654)cCc>cTc	p.P218L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TAGTGCCAAGGGGAGCACGAA	0.647000													43	232					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19520868	19520868	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:19520868G>A	ENST00000507958.1	-	12	2400	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	CDH18_ENST00000511273.1_Silent_p.S470S|CDH18_ENST00000382275.1_Silent_p.S470S|CDH18_ENST00000274170.4_Silent_p.S470S|CDH18_ENST00000502796.1_Silent_p.S470S|CDH18_ENST00000506372.1_Silent_p.S470S			Q13634	CAD18_HUMAN	cadherin 18, type 2	470	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTGACATGGCTCAGCAAAT	0.383000													34	140					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1289817	1289817	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:1289817A>G	ENST00000397203.2	+	9	2255	c.1849A>G	c.(1849-1851)Act>Gct	p.T617A	ERC1_ENST00000546231.2_Missense_Mutation_p.T617A|ERC1_ENST00000589028.1_Missense_Mutation_p.T617A|ERC1_ENST00000355446.5_Missense_Mutation_p.T617A|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Missense_Mutation_p.T589A|ERC1_ENST00000360905.4_Missense_Mutation_p.T617A			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	617					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGCCTTGACAACTTTGGAGGA	0.473000													30	122					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82450160	82450160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:82450160G>A	ENST00000268206.7	-	17	2092	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.Q591*	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	642					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGATCAGCCTGGTTTAACAGT	0.398000													14	53					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813533	214813533	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:214813533C>T	ENST00000366955.3	+	12	2020	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	618					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGAAAACTCTGTTTTCTTG	0.318000													4	27					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631945	9631945	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:9631945C>T	ENST00000570827.2	+	15	3151	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	USP43_ENST00000285199.6_Missense_Mutation_p.R1004W|USP43_ENST00000570475.1_Missense_Mutation_p.R999W			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1004					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCGTGTTTCGGAAGAAGGA	0.602000													7	40					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705470	14705470	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14705470C>T	ENST00000547437.1	+	6	414	c.337C>T	c.(337-339)Cct>Tct	p.P113S	CLEC17A_ENST00000417570.1_Missense_Mutation_p.P113S|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P96S	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	113						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ACCCCCACTTCCTTGCAAGCC	0.557000													11	42					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143032	41143032	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41143032C>T	ENST00000263413.3	-	18	2964	c.2700G>A	c.(2698-2700)atG>atA	p.M900I	C6_ENST00000337836.5_Missense_Mutation_p.M900I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	900	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGATGATCCCATTTTGACAC	0.443000													8	37					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587284	42587284	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:42587284C>T	ENST00000289957.2	+	5	962	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	278					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACAGTTTTCCTTTTAGTGA	0.408000													29	119					0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102881	24102881	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:24102881C>T	ENST00000594466.1	+	3	328	c.223C>T	c.(223-225)Cca>Tca	p.P75S	ZNF726_ENST00000575986.1_Missense_Mutation_p.P75S|ZNF726_ENST00000334589.5_Missense_Mutation_p.P75S|ZNF726_ENST00000322487.7_Missense_Mutation_p.P75S|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000525354.2_Missense_Mutation_p.P75S|ZNF726_ENST00000531821.2_Missense_Mutation_p.P75S	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	75					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GGATGAACCCCCAGGTAGGTG	0.448000													11	47					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673182	141673182	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141673182T>C	ENST00000547270.1	-	1	391	c.308A>G	c.(307-309)aAc>aGc	p.N103S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	103					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTTGGCTTGGTTTGCAATCAT	0.522000													13	129					0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929490	139929490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139929490C>T	ENST00000314330.2	+	3	2071	c.557C>T	c.(556-558)cCc>cTc	p.P186L		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	186										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TCATCTCACCCCACCCAGGCC	0.587000													20	88					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649923	150649923	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150649923C>G	ENST00000392968.2	-	4	1979	c.859G>C	c.(859-861)Gac>Cac	p.D287H	KCNH2_ENST00000330883.4_Missense_Mutation_p.D43H|KCNH2_ENST00000430723.3_Missense_Mutation_p.D383H|KCNH2_ENST00000262186.5_Missense_Mutation_p.D383H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	383					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.D383N(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCAGCACGTCGGCGCCCAGG	0.677000													7	111					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142366972	142366972	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:142366972G>A	ENST00000377741.3	-	2	1142	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	351						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ATTAGCCAGGGCCTGGGTGAG	0.667000													10	36					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024114	6024114	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6024114G>A	ENST00000330728.4	-	1	310	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L89I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGGAAGAGAAGGCTGAGG	0.592000													9	44					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658914	8658914	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8658914C>T	ENST00000328794.6	-	4	585	c.409G>A	c.(409-411)Gct>Act	p.A137T		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	137										breast(1)|endometrium(2)|kidney(1)	4						ATGACCATAGCCAGGAGATAC	0.522000													49	211					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292941	130292941	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:130292941G>A	ENST00000358511.6	+	7	3150	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1040E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1040	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCGAATAGGAGCGGCCCAG	0.423000													6	18					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052838	15052838	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15052838G>A	ENST00000248072.3	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	180					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)					CTTTTTTTGTGATCCTTCCGA	0.468000													28	132					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168910	142168910	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142168910G>A	ENST00000454561.2	-	0	135																											AGAGCCGAGTGAATTCTGGGC	0.582000													4	17					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640047	142640047	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142640047G>A	ENST00000355265.2	-	17	2330	c.1856C>T	c.(1855-1857)cCa>cTa	p.P619L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	619					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTAGGTAATGGAAAGGCAGC	0.547000													26	150					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	535890	535890	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:535890C>T	ENST00000215574.4	+	2	449	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	77					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTCGGTTCCTGACCAAGA	0.642000													83	463					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657527	138657527	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138657527C>T	ENST00000298480.5	+	13	1332	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	KCNT1_ENST00000263604.3_Silent_p.L401L|KCNT1_ENST00000487664.1_Silent_p.L375L|KCNT1_ENST00000488444.2_Silent_p.L401L|KCNT1_ENST00000491806.2_Silent_p.L387L|KCNT1_ENST00000490355.2_Silent_p.L401L|KCNT1_ENST00000486577.2_Silent_p.L381L|KCNT1_ENST00000371757.2_Silent_p.L420L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	420						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCGCAGAGTCCTGCAGATCCC	0.637000													10	38					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170001039	170001039	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:170001039G>T	ENST00000367765.1	-	8	2210	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q233K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q199K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.Q277K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	277					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGTAATAGCTGTTCCTGTTTT	0.348000													13	105					2.32078e-09	2.34539e-09	1	1	0
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:21844746C>T	ENST00000434536.1	+	14	1801	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000252512.9_Missense_Mutation_p.R558C			Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483000													18	97					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021621	130021621	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:130021621G>A	ENST00000011292.3	+	3	448	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CPA1_ENST00000484324.1_Missense_Mutation_p.E12K	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	100					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCTGGACGAGGAGCAGGAGCA	0.622000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	86					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216114	78216114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:78216114C>T	ENST00000171757.2	+	4	377	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Nonsense_Mutation_p.Q33*	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGTGAAATTTCAATACTCCCT	0.428000													14	23					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378648	47378648	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:47378648G>A	ENST00000294947.2	-	3	183	c.148C>T	c.(148-150)Cct>Tct	p.P50S	CALM2_ENST00000422269.1_5'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.P50S	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	50								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCAGGTATAGGAGTATCCTGT	0.363000													9	82					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478514	35478514	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:35478514G>A	ENST00000308700.6	+	2	1185	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ISX_ENST00000404699.2_Missense_Mutation_p.G78E	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G78E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATGCAGAAGGAAGGAAGAGC	0.547000													22	91					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169315	90169315	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:90169315C>T	ENST00000333209.3	-	2	2465	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	649								p.V649V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGCTGCTGTCACATTTAACT	0.572000													27	70					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229188	74229188	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:74229188C>T	ENST00000316292.9	-	2	1187	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E66K|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E66K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	66						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CGTTCACGCTCAGCTTTCAGT	0.433000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	97					0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943932	76943932	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:76943932T>C	ENST00000306602.1	-	2	165	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	34					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTACTAATGCTGATGCAGGTA	0.393000													17	83					0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593548	45593548	+	Missense_Mutation	SNP	G	G	A	rs147899933		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:45593548G>A	ENST00000270257.4	+	3	423	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R59Q|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R59Q|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R59Q	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	59					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CAGCGGGCACGAGCCGCCCTT	0.632000													12	36					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331325	55331325	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55331325C>T	ENST00000391728.4	+	4	546	c.513C>T	c.(511-513)atC>atT	p.I171I	KIR3DL1_ENST00000358178.4_Silent_p.I76I|KIR3DL1_ENST00000541392.1_Silent_p.I171I|KIR3DL1_ENST00000402254.2_Silent_p.I171I|KIR3DL1_ENST00000538269.1_Silent_p.I171I|KIR3DL1_ENST00000326542.7_Silent_p.I171I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTGGACAGATCCATGATGGGG	0.512000													44	218					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286823	18286823	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:18286823G>A	ENST00000399134.4	+	9	1156	c.798G>A	c.(796-798)ctG>ctA	p.L266L	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	266										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGAGGCCCTGAAGATGGAGT	0.706000													4	10					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:182374525G>A	ENST00000397033.2	+	16	2266	c.1836G>A	c.(1834-1836)atG>atA	p.M612I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	612					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGACATAATGAAAAAAACAG	0.328000													8	29					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261526	6261526	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6261526C>T	ENST00000379936.2	+	4	617	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	168					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGCCTTTCGCATTGCCAA	0.582000													23	94					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	G	A	rs145920072	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13923485G>A	ENST00000265104.4	-	4	446	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	114	Stem (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)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome				12	74					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830331	147830331	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:147830331C>T	ENST00000513335.1	-	6	524	c.325G>A	c.(325-327)Gag>Aag	p.E109K	TTC29_ENST00000325106.4_Missense_Mutation_p.E83K|TTC29_ENST00000398886.4_Missense_Mutation_p.E109K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	83							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCGAAGAGCTCGGTGAAGGAC	0.517000													6	26					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872796	55872796	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55872796C>T	ENST00000313503.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AACTATATTTCCTTTACGGGC	0.428000										HNSCC(53;0.14)			51	364					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102480	58102480	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58102480C>T	ENST00000597850.1	+	4	1516	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	ZIK1_ENST00000536878.2_Missense_Mutation_p.P421L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.P379L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAAGGCCTTATGAGTGT	0.458000													11	39					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102804374	102804374	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:102804374C>T	ENST00000264257.2	+	2	173	c.47C>T	c.(46-48)tCt>tTt	p.S16F	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.L43L|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S16F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	16					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTCCACTGTCTGTCACAGCA	0.642000													16	129					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61444018	61444018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61444018C>T	ENST00000395348.3	-	2	668	c.32G>A	c.(31-33)tGg>tAg	p.W11*	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.W11*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	11					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CACCCAGCCCCATCCACCGTC	0.438000													13	67					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634153	121634153	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121634153C>T	ENST00000489711.1	+	6	996	c.608C>T	c.(607-609)cCc>cTc	p.P203L	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P172L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	203					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTATCACACCCATGCTGAGA	0.443000													15	58					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28979385	28979385	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28979385C>T	ENST00000359747.4	+	9	1185	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H386Y|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	386	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTGCATTTCATCCAAGTAC	0.418000													20	64					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:39162039G>A	ENST00000359534.3	-	4	878	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000													24	109					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129240643	129240643	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:129240643G>A	ENST00000305031.4	+	1	479	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	41						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAAGAGACGTGGCTCCAGCCT	0.711000													4	8					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138617	33138617	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:33138617G>A	ENST00000341947.2	-	46	3671	c.3444C>T	c.(3442-3444)ttC>ttT	p.F1148F	COL11A2_ENST00000357486.1_Silent_p.F1127F|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Silent_p.F1122F|COL11A2_ENST00000374713.1_Silent_p.F1101F|COL11A2_ENST00000374712.1_Silent_p.F1067F|COL11A2_ENST00000361917.1_Silent_p.F1041F|COL11A2_ENST00000374708.4_Silent_p.F1062F|COL11A2_ENST00000395197.1_Silent_p.F1088F	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1148	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGCCCATTGAATCCTCTTG	0.602000													7	164					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99408035	99408035	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:99408035C>T	ENST00000305798.3	-	3	535	c.132_splice	c.e3-1	p.G45_splice	TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	45						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GACAGAACTCCCTGGGAGCAG	0.483000													14	123					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96388721	96388721	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:96388721C>T	ENST00000261208.3	-	3	666	c.298G>A	c.(298-300)Gga>Aga	p.G100R	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.G100R	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	100					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGATAAACTCCTTCTGGTTGA	0.493000													28	75					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123270074C>T	ENST00000451558.1	+	13	2016	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ASB15_ENST00000540573.1_Missense_Mutation_p.R499C|ASB15_ENST00000434204.1_Missense_Mutation_p.R499C|ASB15_ENST00000451215.1_Missense_Mutation_p.R499C|ASB15_ENST00000275699.3_Missense_Mutation_p.R499C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358000													20	192					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:176563735G>A	ENST00000367662.3	+	3	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G332E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	332					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						AAGGACAAGGGAAAGCGGGAT	0.562000													10	49					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750145	142750145	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142750145C>T	ENST00000418316.1	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGAAGGCTTTCTCCACTTGCG	0.547000													13	216					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430619	2430619	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2430619G>A	ENST00000449969.1	+	19	2611	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E	PLCH2_ENST00000419816.2_Missense_Mutation_p.G844E|PLCH2_ENST00000378486.3_Missense_Mutation_p.G844E|PLCH2_ENST00000378488.3_Missense_Mutation_p.G808E|PLCH2_ENST00000288766.5_Missense_Mutation_p.G132E|PLCH2_ENST00000378483.2_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	844	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GATCCCATCGGGCGTGACTTC	0.657000													7	49					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021747	51021747	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51021747G>A	ENST00000599957.1	-	3	1420	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	LRRC4B_ENST00000389201.3_Missense_Mutation_p.S408F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	408	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGCGGTAGGAGCCGTGGGT	0.632000													8	40					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126129486	126129486	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:126129486G>A	ENST00000373631.3	+	5	791	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CRB2_ENST00000359999.3_Missense_Mutation_p.E264K	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	264	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACGAGGACGAGTGTGCATC	0.682000													19	107					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736635	27736635	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:27736635G>A	ENST00000430629.2	-	8	1105	c.890C>T	c.(889-891)cCa>cTa	p.P297L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	297					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGATGGCTTGGGCTGACCAC	0.557000													9	67					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46014621	46014621	+	Silent	SNP	C	C	T	rs149291592	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46014621C>T	ENST00000296137.2	-	6	703	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_ENST00000535325.1_Silent_p.S166S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	166	RUN.				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)		CAAAGCCCCTCGACGCCAGGT	0.483000													13	87					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58937421	58937421	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:58937421C>T	ENST00000423743.3	+	18	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	KIAA0586_ENST00000261244.5_Missense_Mutation_p.P769S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P830S|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P898S	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	769										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTCTTCCTCCTGTGCAAAC	0.343000													6	22					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:69245538G>A	ENST00000542259.1	-	15	1391	c.940C>T	c.(940-942)Cct>Tct	p.P314S	FRMD4B_ENST00000478263.1_Missense_Mutation_p.P20S|FRMD4B_ENST00000398540.3_Missense_Mutation_p.P368S			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	368	FERM.					cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000													8	60					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124097543	124097543	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:124097543C>T	ENST00000368994.2	+	16	1718	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	BTBD16_ENST00000260723.4_Silent_p.I488I			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	488										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGAAAATCCAAACTGTGG	0.418000													10	18					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915326	32915326	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:32915326C>T	ENST00000544455.1	+	11	7061	c.6834C>T	c.(6832-6834)atC>atT	p.I2278I	BRCA2_ENST00000380152.3_Silent_p.I2278I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2278					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCCCCTTATCTTAGTGGGTA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	87					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35757365	35757365	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:35757365G>A	ENST00000602122.1	+	5	1456	c.969G>A	c.(967-969)atG>atA	p.M323I	LSR_ENST00000427250.1_Missense_Mutation_p.M186I|LSR_ENST00000360798.3_Missense_Mutation_p.M274I|LSR_ENST00000354900.3_Missense_Mutation_p.M323I|LSR_ENST00000347609.4_Missense_Mutation_p.M305I|LSR_ENST00000361790.3_Missense_Mutation_p.M342I			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	342					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CACCAGCTATGATTCCCATGG	0.622000													20	106					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876077	154876077	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:154876077C>T	ENST00000287907.2	+	2	1530	c.954C>T	c.(952-954)atC>atT	p.I318I	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	318						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCCCCGCCATCTGGAAAAGCA	0.522000													30	162					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632963	169632963	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169632963G>A	ENST00000335742.7	+	10	2064	c.707G>A	c.(706-708)gGa>gAa	p.G236E	PALLD_ENST00000512127.1_Missense_Mutation_p.G236E|PALLD_ENST00000505667.1_Missense_Mutation_p.G618E|PALLD_ENST00000261509.6_Missense_Mutation_p.G618E			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	618					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCAGCCGTGGAGTAAATGGA	0.517000									Pancreatic Cancer, Familial Clustering of				7	44					0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:52433367C>T	ENST00000335281.4	+	3	584	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_ENST00000553432.1_Missense_Mutation_p.P91S|GNG2_ENST00000554736.1_Missense_Mutation_p.P60S|GNG2_ENST00000557376.1_Missense_Mutation_p.P99S|GNG2_ENST00000556752.1_Missense_Mutation_p.P60S|GNG2_ENST00000556766.1_Missense_Mutation_p.P60S|GNG2_ENST00000555472.1_Missense_Mutation_p.P60S|GNG2_ENST00000553299.1_3'UTR	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000													21	84					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321567	78321567	+	Silent	SNP	C	C	T	rs150377982		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:78321567C>T	ENST00000582970.1	+	29	9575	c.9432C>T	c.(9430-9432)ccC>ccT	p.P3144P	RNF213_ENST00000508628.2_Silent_p.P3193P|RNF213_ENST00000336301.6_Silent_p.P1217P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGTTCACCCCAACTTCCGCC	0.547000													14	58					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645041	52645041	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:52645041C>T	ENST00000395961.3	-	4	779	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	BCAS1_ENST00000371440.3_Missense_Mutation_p.E205K|BCAS1_ENST00000411563.1_Missense_Mutation_p.E108K|BCAS1_ENST00000371435.2_Missense_Mutation_p.E205K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	205						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCACCTTTTCCTGTCCCTTG	0.552000													38	192					0	0	1	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476119	89476119	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:89476119G>A	ENST00000484817.1	-	0	82																											ATCCCCACTGGATCCTGAAAT	0.418000													27	57					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452839	58452839	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58452839C>T	ENST00000282308.3	-	3	1533	c.1337G>A	c.(1336-1338)aGg>aAg	p.R446K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAA	0.383000													11	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585804	179585804	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179585804C>T	ENST00000589042.1	-	79	23166	c.22942G>A	c.(22942-22944)Gaa>Aaa	p.E7648K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6404K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7331K|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7331	Ig-like 58.						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)			TCATGAAGTTCGCTGTCATTT	0.403000													13	56					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283697	159283697	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159283697G>A	ENST00000332217.5	-	1	752	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGCCATAGTGGATGATGACCA	0.527000													10	35					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51159460	51159460	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:51159460G>A	ENST00000414786.2	+	21	3384	c.3157G>A	c.(3157-3159)Gac>Aac	p.D1053N	SHANK3_ENST00000262795.3_Missense_Mutation_p.D1083N|SHANK3_ENST00000445220.2_Missense_Mutation_p.D1069N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1083										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGCCGGCCGCGACCTGCTGCT	0.736000													9	22					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51497944	51497944	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:51497944G>A	ENST00000307660.4	-	8	1527	c.807C>T	c.(805-807)gtC>gtT	p.V269V	TFCP2_ENST00000257915.5_Silent_p.V320V|TFCP2_ENST00000548115.1_Silent_p.V269V|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	320	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTACATCTGTGACTGGAGGGG	0.408000													13	114					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648255	41648255	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:41648255G>A	ENST00000313860.7	+	11	1268	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	LIMCH1_ENST00000512632.1_Missense_Mutation_p.R405Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R234Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R405Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R239Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R246Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R405Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R239Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R393Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R246Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R790Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R251Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	405					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACAAGTGAACGAAGGAAAAGC	0.348000													12	26					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208283	105208283	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:105208283G>A	ENST00000332972.5	+	9	1180	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	ADSSL1_ENST00000330877.2_Missense_Mutation_p.V298M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	298					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTATGGCGTGGTGAAAGCCTA	0.642000													66	199					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42787503	42787503	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:42787503A>G	ENST00000310232.6	-	7	820	c.737T>C	c.(736-738)gTt>gCt	p.V246A	CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	246										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTCTTCCCCAACCTCTCTGGC	0.512000													16	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613716	179613716	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179613716C>T	ENST00000360870.5	-	46	13633	c.13411G>A	c.(13411-13413)Gga>Aga	p.G4471R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	601	Ig-like 24.						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)			TCTAGAACTCCTTTTTCTACA	0.348000													5	15					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024612	16024612	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16024612G>A	ENST00000402119.3	-	12	1931	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Missense_Mutation_p.P502L	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	502					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TATCAGCTCGGGTTTCCTGCG	0.632000													15	52					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558188	159558188	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159558188C>T	ENST00000255040.2	+	2	459	c.362C>T	c.(361-363)tCa>tTa	p.S121L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	121	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.S121L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAGTCCTCATCAGGTATTGCT	0.468000													4	40					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547025	37547025	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:37547025G>A	ENST00000299824.1	+	11	1609	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E432K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	474					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTACAAGGAACAGAGCCC	0.642000													13	87					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830821	2830821	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2830821C>T	ENST00000520002.1	-	58	9299	c.8743_splice	c.e58-1	p.G2915_splice	CSMD1_ENST00000537824.1_Splice_Site_p.G2914_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2856_splice|CSMD1_ENST00000602723.1_Splice_Site_p.G2857_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2857_splice|CSMD1_ENST00000602557.1_Splice_Site_p.G2915_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2915	Sushi 21.					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)		AGGATTATTTCCTATTGAAAA	0.413000													49	192					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525116	9525116	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9525116C>T	ENST00000592904.1	-	5	2561	c.485G>A	c.(484-486)gGg>gAg	p.G162E	ZNF266_ENST00000361451.2_Missense_Mutation_p.G162E|ZNF266_ENST00000588933.1_Missense_Mutation_p.G162E|ZNF266_ENST00000592292.1_Missense_Mutation_p.G162E|ZNF266_ENST00000588221.1_Missense_Mutation_p.G162E|ZNF266_ENST00000361151.1_Missense_Mutation_p.G162E|ZNF266_ENST00000590306.1_Missense_Mutation_p.G162E			Q14584	ZN266_HUMAN	zinc finger protein 266	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAAGGATTTCCCAGAGTCACT	0.433000													25	89					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837869	93837869	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93837869G>A	ENST00000315765.9	+	16	2866	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	953	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAGATCCACGAGATTTTAAG	0.343000													18	104					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130486656	130486656	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130486656C>T	ENST00000393748.4	+	7	1024	c.602C>T	c.(601-603)cCa>cTa	p.P201L	TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000373289.3_Intron			Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	0							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCAGCGACCAGGGCACTGG	0.682000													4	33					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363552	10363552	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10363552C>T	ENST00000255381.2	-	13	1344	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	412	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						GTTACGAACTCATTGCCGACC	0.448000													23	102					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367652	2367652	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:2367652G>A	ENST00000301732.5	-	9	1687	c.987C>T	c.(985-987)gtC>gtT	p.V329V	ABCA3_ENST00000382381.3_Silent_p.V329V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	329					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCTCACCTTGACACAGAAGA	0.607000													12	73					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052888	193052888	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193052888C>T	ENST00000342358.4	-	10	1061	c.943_splice	c.e10-1	p.G315_splice		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	315					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)		TATACTTTCTCCTAAAGAGGA	0.398000													8	70					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72137629	72137629	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:72137629C>T	ENST00000268482.3	+	13	2275	c.1766C>T	c.(1765-1767)gCt>gTt	p.A589V	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	589	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGGCGTGTAGCTGCCATGTCA	0.572000													11	32					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77807327	77807327	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:77807327G>A	ENST00000407578.2	-	18	2967	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P863S|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P863S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGTGCTGGATGGGATCTG	0.433000													29	123					0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424760	89424760	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:89424760C>T	ENST00000359595.3	-	3	535	c.321G>A	c.(319-321)ctG>ctA	p.L107L	HAPLN3_ENST00000562889.1_Silent_p.L169L	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	107	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGCGGTGCCTCAGCCCGATGG	0.657000													19	97					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584275	82584275	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82584275C>T	ENST00000423517.2	-	5	6331	c.5994G>A	c.(5992-5994)caG>caA	p.Q1998Q	PCLO_ENST00000333891.8_Silent_p.Q1998Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1929					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						CTTCATAAATCTGTTCTGAAA	0.373000													11	129					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435666	18435666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18435666G>A	ENST00000433979.1	+	2	767	c.651G>A	c.(649-651)tgG>tgA	p.W217*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.W217*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.W217*|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.W217*|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	217					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCGGAATGTGGGAAAGTACAT	0.358000													27	115					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926687	157926687	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:157926687C>T	ENST00000389413.3	-	9	1341	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	PTPRN2_ENST00000389416.4_Missense_Mutation_p.G396E|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G413E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G436E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G375E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	413						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)		GGGGAGGGCTCCAGGTAAGAG	0.607000													23	91					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001592	177001592	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:177001592C>T	ENST00000367654.2	-	3	878	c.865_splice	c.e3+1	p.G289_splice	ASTN1_ENST00000367657.3_Splice_Site_p.G289_splice|ASTN1_ENST00000424564.2_Splice_Site_p.G289_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Splice_Site_p.G289_splice			O14525	ASTN1_HUMAN	astrotactin 1	289					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATCCCCACCTGGTGTGAGG	0.587000													25	153					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69795192	69795192	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:69795192G>A	ENST00000337827.4	+	6	921	c.594G>A	c.(592-594)ggG>ggA	p.G198G	GALNT16_ENST00000553669.1_Silent_p.G198G|GALNT16_ENST00000448469.3_Silent_p.G198G	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GAGTGCGTGGGGCGGACGTGG	0.627000													38	192					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:185074732C>T	ENST00000296741.2	-	2	537	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000													5	64					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4428422	4428422	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:4428422G>A	ENST00000329078.3	+	3	717	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	169					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACAGGAAGGTGATTCTCAGCT	0.617000													41	150					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112066513	112066513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:112066513C>T	ENST00000315711.8	+	4	587	c.530C>T	c.(529-531)tCa>tTa	p.S177L	CD200_ENST00000473539.1_Missense_Mutation_p.S202L|CD200_ENST00000383681.3_Missense_Mutation_p.S103L	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	177	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GTCCCTCGGTCAGGGATTGAA	0.498000													17	96					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64876678	64876678	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:64876678G>A	ENST00000533854.1	+	4	525	c.288G>A	c.(286-288)atG>atA	p.M96I	CACNG5_ENST00000169565.3_Missense_Mutation_p.M96I|CACNG5_ENST00000307139.3_Missense_Mutation_p.M96I			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	96					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AATTAGAGATGATCCGCTCAG	0.522000													14	58					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417910	55417910	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55417910G>A	ENST00000594765.1	+	3	125	c.100G>A	c.(100-102)Gag>Aag	p.E34K	NCR1_ENST00000291890.4_Missense_Mutation_p.E34K|NCR1_ENST00000447255.1_Missense_Mutation_p.E34K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E34K|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.E22K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	34	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CATCTGGGCCGAGCCCCATTT	0.542000													27	96					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197503	15197503	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:15197503C>T	ENST00000379554.3	+	3	460	c.414C>T	c.(412-414)atC>atT	p.I138I	INSC_ENST00000528567.1_Silent_p.I91I|INSC_ENST00000379556.3_Silent_p.I91I|INSC_ENST00000530161.1_Silent_p.I91I|INSC_ENST00000424273.1_Silent_p.I91I|INSC_ENST00000525218.1_Silent_p.I91I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	138					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCGCAGGATCGGGCAGAAGC	0.652000													6	38					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180273	117180273	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:117180273G>A	ENST00000003084.6	+	8	1121	c.989G>A	c.(988-990)gGa>gAa	p.G330E	CFTR_ENST00000454343.1_Missense_Mutation_p.G330E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	330	ABC transmembrane type-1 1.				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)	CTAATCAAAGGAATCATCCTC	0.463000									Cystic Fibrosis				10	91					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7916578	7916578	+	Silent	SNP	C	C	T	rs146356394		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7916578C>T	ENST00000270530.4	+	8	1105	c.909C>T	c.(907-909)atC>atT	p.I303I	EVI5L_ENST00000538904.2_Silent_p.I303I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	303						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGCTGGAGATCGTGTTCCGAG	0.677000													11	59					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965860	88965860	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88965860C>T	ENST00000333190.4	+	4	4173	c.3564C>T	c.(3562-3564)gcC>gcT	p.A1188A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1188						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGCCTACTGCCTTCTCTCCGG	0.488000										HNSCC(36;0.09)			13	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179423233	179423233	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179423233C>T	ENST00000589042.1	-	327	87177	c.86953G>A	c.(86953-86955)Gga>Aga	p.G28985R	TTN_ENST00000359218.5_Missense_Mutation_p.G20045R|TTN_ENST00000342175.6_Missense_Mutation_p.G20112R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26417R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27344R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19920R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27344	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTGTCCTTTTTCTAGT	0.433000													10	20					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49951177	49951177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:49951177G>A	ENST00000355854.4	-	3	699	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.Q68*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.Q68*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.Q68*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	68					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGTGCTAGCTGAGCCACTGCT	0.468000													11	77					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544995	192544995	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:192544995G>A	ENST00000367459.3	+	1	139	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RGS1_ENST00000469578.2_Missense_Mutation_p.E25K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	25					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAACCCAAAGGAATTGAAAGG	0.418000													7	33					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432958	47432958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:47432958G>A	ENST00000285039.7	-	19	2544	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	749	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTGCTCGAAAGAAGATC	0.557000													23	68					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39306638	39306638	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:39306638G>A	ENST00000221418.4	-	9	973	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTTTGTCTGGGAACACCCGGC	0.612000													8	54					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976319	241976319	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:241976319G>A	ENST00000310397.8	+	5	918	c.918G>A	c.(916-918)cgG>cgA	p.R306R	SNED1_ENST00000401884.1_Silent_p.R306R|SNED1_ENST00000405547.3_Silent_p.R306R|SNED1_ENST00000342631.6_Silent_p.R306R|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	306	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCACGGGGCGGAGGTGCCACC	0.716000													3	13					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012436	167012436	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:167012436C>T	ENST00000061240.2	+	19	3246	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	TLL1_ENST00000507499.1_Missense_Mutation_p.R890W	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	867	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R867W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATGTTTGTTCGGTTTGTTTC	0.403000													6	36					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135206524	135206524	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:135206524G>A	ENST00000372169.2	-	9	1195	c.1013C>T	c.(1012-1014)aCc>aTc	p.T338I	SETX_ENST00000224140.5_Missense_Mutation_p.T338I|SETX_ENST00000393220.1_Missense_Mutation_p.T338I			Q7Z333	SETX_HUMAN	senataxin	338					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCTAACTTGGTCCTTAAATA	0.343000													8	42					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318766	79318766	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:79318766C>T	ENST00000428286.1	-	9	7886	c.6686G>A	c.(6685-6687)gGa>gAa	p.G2229E	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G2588E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2588					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAACTGAGTTCCCTGCAGCCC	0.428000													13	66					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38997005	38997005	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38997005C>T	ENST00000355481.4	+	55	8735	c.8604C>T	c.(8602-8604)tcC>tcT	p.S2868S	RYR1_ENST00000359596.3_Silent_p.S2868S|RYR1_ENST00000360985.3_Silent_p.S2868S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2868	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTACCCTGTCCCGGGAGCTGC	0.587000													15	93					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91639693	91639693	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:91639693C>T	ENST00000518868.1	+	9	1207	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	C14orf159_ENST00000521077.2_Missense_Mutation_p.P173S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P168S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P44S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P168S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P168S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P173S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P168S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P168S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P173S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	168						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACGATGAGGCCCATTCCCAA	0.532000											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	58					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57058075	57058075	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:57058075G>A	ENST00000308249.2	+	7	2080	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	660					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGTCTGTTCAGGGTTGGAAAA	0.458000													39	202					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75761470	75761470	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:75761470C>T	ENST00000260113.2	+	6	938	c.759C>T	c.(757-759)taC>taT	p.Y253Y	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.Y253Y|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	253						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGTCAAACTACCTGTACTGGT	0.378000													20	71					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474594	82474594	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82474594C>T	ENST00000423517.2	-	13	14376	c.14039G>A	c.(14038-14040)aGc>aAc	p.S4680N	PCLO_ENST00000333891.8_Missense_Mutation_p.S4680N|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4568					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						CACCTTGCTGCTGCCGTGCTT	0.458000													3	27					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52406983	52406983	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:52406983C>T	ENST00000420323.2	+	44	7160	c.6899C>T	c.(6898-6900)gCc>gTc	p.A2300V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2300	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACATGCCGGCCCTGGAGACC	0.617000													13	131					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:226447249G>A	ENST00000272907.6	+	4	1529	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000													14	20					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63996739	63996739	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:63996739C>T	ENST00000279206.3	+	4	756	c.600C>T	c.(598-600)acC>acT	p.T200T	RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.T167T	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	200	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CGCTGCTCACCCTGAGCCAGC	0.617000													3	14					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713546	70713546	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70713546C>T	ENST00000530196.1	-	0	972					NR_003951.1																						TGAGAGAAATCATTTAGGATC	0.358000													7	41					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646797	127646797	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:127646797C>T	ENST00000405109.1	+	3	1728	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Missense_Mutation_p.P28S|KBTBD12_ENST00000405256.1_Missense_Mutation_p.P421S|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	421										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAGGGTGTCTCCCCTTCCACT	0.378000													15	32					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22573859	22573859	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22573859G>A	ENST00000390453.1	+	0	79																											ACTGAACGTGGAACAAAGTCC	0.438000													4	10					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92349320	92349320	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:92349320C>T	ENST00000267620.10	-	9	1132	c.963G>A	c.(961-963)ctG>ctA	p.L321L	FBLN5_ENST00000556154.1_Silent_p.L285L|FBLN5_ENST00000342058.4_Silent_p.L280L			Q9UBX5	FBLN5_HUMAN	fibulin 5	280	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGTTGTCATCCAGCAGGATGT	0.572000													8	67					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678815	130678815	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:130678815C>T	ENST00000338616.3	+	1	866	c.768C>T	c.(766-768)tcC>tcT	p.S256S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CAGCCATCTCCATGTATATGA	0.473000													25	47					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65040921	65040921	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:65040921G>A	ENST00000226021.3	+	1	216	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	49					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CTGCGAGGCGGCCCACTTCGG	0.647000													12	84					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262322	65262322	+	Silent	SNP	G	G	A	rs146670683		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65262322G>A	ENST00000389722.3	-	11	1430	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	SPTB_ENST00000556626.1_Silent_p.A459A|SPTB_ENST00000542895.1_Silent_p.A459A|SPTB_ENST00000389720.3_Silent_p.A459A|SPTB_ENST00000389721.5_Silent_p.A459A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	459					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTTCTTGGCGGCCTCCACAG	0.602000													14	72					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443549	150443549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:150443549C>T	ENST00000401000.4	+	10	2112	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	RPRD2_ENST00000539519.1_Nonsense_Mutation_p.Q683*|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.Q709*|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	709	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCAGACTTCCAGCGTGGCCC	0.527000													10	53					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631274	22631274	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22631274G>A	ENST00000390458.3	+	0	141																											CATCAGTGCTGATTCTGTGGC	0.483000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351786	123351786	+	Silent	SNP	G	G	A	rs138310143	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:123351786G>A	ENST00000267202.2	-	4	1116	c.735C>T	c.(733-735)ccC>ccT	p.P245P		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	245	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGCCCACGCGGGGGGGCAGGG	0.687000													18	66					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654548	19654548	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:19654548G>A	ENST00000586018.1	+	8	1314	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	CILP2_ENST00000291495.4_Silent_p.E398E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	398						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.E398E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGCTCCCTGAGGACTGTGGTC	0.687000													77	280					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941146	61941146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61941146G>A	ENST00000280772.1	-	18	2316	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.R703*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R692*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	709					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						ACATTCACTCGATCTTCTTGA	0.522000													29	96					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126315094	126315094	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:126315094G>A	ENST00000335110.5	+	1	4	c.4G>A	c.(4-6)Gta>Ata	p.V2I	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCTAAATGGTAACAACGGT	0.393000													8	28					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11774915	11774915	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11774915G>A	ENST00000262442.3	+	52	10122	c.10053_splice	c.e52-1	p.V3352_splice	DNAH9_ENST00000454412.2_Splice_Site_p.V3352_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3352					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)		GAAATGGTAGGTTGGAGGACT	0.512000													26	93					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226427	179226427	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179226427C>T	ENST00000190611.4	+	13	1548	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	OSBPL6_ENST00000409631.1_Missense_Mutation_p.S391F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S360F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S416F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S391F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S360F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S395F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	391					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTTTGAAGTCTGCATTTAAT	0.433000													27	77					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971194	57971194	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57971194C>G	ENST00000302592.6	-	1	459	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCAAAGTGCCGAACCTGGCC	0.483000													20	127					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135206523	135206523	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:135206523G>A	ENST00000372169.2	-	9	1196	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	SETX_ENST00000224140.5_Silent_p.T338T|SETX_ENST00000393220.1_Silent_p.T338T			Q7Z333	SETX_HUMAN	senataxin	338					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTCTAACTTGGTCCTTAAAT	0.343000													9	42					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706744	49706744	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:49706744C>T	ENST00000303221.5	-	4	654	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.E93K|EMB_ENST00000514111.1_Missense_Mutation_p.E97K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	147	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGTTCCTTTTCCTCTCGAAAG	0.308000													6	26					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052800	177052800	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:177052800C>T	ENST00000393643.2	+	7	1261	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	WDR17_ENST00000280190.4_Missense_Mutation_p.P361S|WDR17_ENST00000507824.2_Missense_Mutation_p.P344S|WDR17_ENST00000508596.1_Missense_Mutation_p.P337S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	361										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTTTCTCTTCCTCCTGGTCA	0.403000													23	217					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100195400	100195400	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:100195400G>A	ENST00000325103.6	-	4	480	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	HPS1_ENST00000338546.5_Missense_Mutation_p.L83F|HPS1_ENST00000361490.4_Missense_Mutation_p.L83F|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	83					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACCAGGTGAAGGACATACAGG	0.527000									Hermansky-Pudlak syndrome				19	99					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435603	145435603	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:145435603C>T	ENST00000511217.1	+	7	1434	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S461F|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	461							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGACGTTATCCACCTCCTCT	0.483000													46	227					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867796	150867796	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:150867796C>T	ENST00000243389.3	+	11	1635	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	SLC36A1_ENST00000520701.1_Missense_Mutation_p.S471F	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	471					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTCATCAATTCCACCTGTGCC	0.567000													8	47					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109157	39109157	+	Splice_Site	SNP	G	G	A	rs148747631	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:39109157G>A	ENST00000297668.6	-	15	2438	c.2365_splice	c.e15+1	p.Q789_splice	CNTNAP3_ENST00000377656.2_Splice_Site_p.Q788_splice|CNTNAP3_ENST00000358144.2_Splice_Site_p.Q701_splice	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	789	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACTACTTACGATCTCCGCGG	0.448000													5	46					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143998579	143998579	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:143998579C>T	ENST00000323110.2	-	2	293	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	97					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCAGCTTCTCCACATCCTCCG	0.607000									Familial Hyperaldosteronism type I				32	128					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147705	100147705	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:100147705C>T	ENST00000231461.5	-	5	1236	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	309					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GACCGCTTTTCCATTTAAATC	0.368000													10	27					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118974082	118974082	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:118974082G>A	ENST00000328252.3	+	4	2158	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	597					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTCGAGACTGGAGACCTCTG	0.547000													36	163					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338879	54338879	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54338879G>A	ENST00000243056.3	+	2	988	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	278						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCTAGAGAAGGAATACGCGGC	0.612000			T	NUP98	AML								27	112					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573527	154573527	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:154573527G>A	ENST00000368474.4	-	2	1790	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ADAR_ENST00000368471.3_Missense_Mutation_p.H236Y|ADAR_ENST00000292205.5_Missense_Mutation_p.H574Y	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	531	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGAGGTTCATGGGGTGGTCCA	0.527000													18	154					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124294222G>A	ENST00000356130.3	-	1	567	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000													7	15					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686660	78686660	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:78686660G>A	ENST00000545128.1	+	7	1278	c.740G>A	c.(739-741)gGa>gAa	p.G247E	PCSK5_ENST00000376767.3_Missense_Mutation_p.G247E|PCSK5_ENST00000376752.4_Missense_Mutation_p.G247E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	247	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G247E(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCTGGACGGAGATGTCACG	0.522000													28	131					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398635	116398635	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:116398635C>T	ENST00000397752.3	+	9	2425	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	MET_ENST00000436117.2_Missense_Mutation_p.P742L|MET_ENST00000318493.6_Missense_Mutation_p.P742L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	742	IPT/TIG 3.				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)			CGTGAAGATCCCATTGTCTAT	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	48					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862102	128862102	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:128862102C>T	ENST00000274487.4	+	4	1166	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	341	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTTTCCTATCATGGAGCAGA	0.388000													16	68					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272972	77272972	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:77272972T>C	ENST00000251089.2	-	5	1279	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	389										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TATGGGTATTTGCCACACACA	0.567000													19	69					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595113	129595113	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:129595113T>A	ENST00000373464.4	+	3	589	c.325T>A	c.(325-327)Ttc>Atc	p.F109I	ZBTB43_ENST00000449886.1_Missense_Mutation_p.F109I|ZBTB43_ENST00000373457.1_Missense_Mutation_p.F109I	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCGGCAAGCTTCCTCCAGAT	0.453000													16	63					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133919138	133919138	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:133919138C>T	ENST00000220616.4	+	17	3880	c.3840C>T	c.(3838-3840)gcC>gcT	p.A1280A	TG_ENST00000377869.1_Silent_p.A1280A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1280					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCCCGGGCCTGCCAACGTG	0.642000													3	24					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981857	64981857	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:64981857G>A	ENST00000268603.4	-	13	2655	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.T554T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	680					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATTCTGGAGGGTGGCAATAT	0.483000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			27	91					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904996	12904996	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:12904996C>T	ENST00000380659.3	+	3	1508	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	457					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAGTTATGAACCCCAGGTCCT	0.363000													10	31					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504344	66504344	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:66504344G>A	ENST00000360242.5	+	2	461	c.344G>A	c.(343-345)aGt>aAt	p.S115N	CCDC102B_ENST00000319445.6_Missense_Mutation_p.S115N|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S115N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S115N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	115										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAAGGAACAGTGCCAGGGAG	0.473000													10	59					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691178	18691178	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18691178G>A	ENST00000433979.1	+	24	3405	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1138K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1097K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGATTTTGTGGAACTTTGCTG	0.383000													3	23					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130251788	130251788	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130251788C>T	ENST00000323301.4	+	18	2017	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.I471I|LRSAM1_ENST00000300417.6_Silent_p.I471I|LRSAM1_ENST00000373324.4_Silent_p.I471I	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	471					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						ATCGGCAGATCAGGAGCCAGG	0.637000													3	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179570033	179570033	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179570033C>T	ENST00000589042.1	-	103	29696	c.29472G>A	c.(29470-29472)atG>atA	p.M9824I	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M8580I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M9507I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9507	Ig-like 79.						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)			TGAGAAGTTCCATGATATCAA	0.343000													5	10					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124399056	124399056	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124399056C>T	ENST00000409039.3	+	60	10204	c.10179C>T	c.(10177-10179)ttC>ttT	p.F3393F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3393					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCAGCCTTTCCGGCTGGAAA	0.592000													9	42					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584938	72584938	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72584938C>T	ENST00000375352.1	-	2	171	c.91G>A	c.(91-93)Gag>Aag	p.E31K	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	31	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GAGCCCTGCTCCGAGCCATTC	0.522000													18	112					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28965102	28965102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28965102G>A	ENST00000359747.4	+	2	81	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V18M|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	18					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAAACAGGTGGTGATGGAAGT	0.234000													19	72					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072928	17072928	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:17072928G>A	ENST00000359963.3	-	1	772	c.513C>T	c.(511-513)acC>acT	p.T171T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	171					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)				ACAGGGTGTGGGTATTCATCA	0.612000													21	82					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830293	147830293	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:147830293C>T	ENST00000513335.1	-	6	562	c.363G>A	c.(361-363)agG>agA	p.R121R	TTC29_ENST00000325106.4_Silent_p.R95R|TTC29_ENST00000398886.4_Silent_p.R121R			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	95							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCGCAGCCTCCCTCAGGGCAT	0.547000													7	47					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579405	33579405	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33579405G>A	ENST00000228567.3	-	2	473	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCTGACAACGACAGCTAACA	0.363000													5	24					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201031145	201031145	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:201031145C>T	ENST00000362061.3	-	24	3206	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D994N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	994	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTGGAAGTCGCTGTGTACC	0.602000													13	47					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880680	142880680	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142880680G>A	ENST00000446620.1	+	1	169	c.169G>A	c.(169-171)Gct>Act	p.A57T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	57					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTCATCATGGCTATACATGC	0.413000													11	68					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202484	248202484	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248202484G>A	ENST00000366479.2	+	1	1011	c.915G>A	c.(913-915)caG>caA	p.Q305Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGTGATTCAGAAAATCTTCT	0.433000													20	82					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868608	57868608	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57868608C>T	ENST00000391705.3	+	4	1655	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G	ZNF304_ENST00000282286.5_Silent_p.G457G|ZNF304_ENST00000443917.2_Silent_p.G504G|ZNF304_ENST00000598744.1_Silent_p.G415G	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGCCTTTGGCTGCAAAGACA	0.478000													33	113					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468140	63468140	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:63468140T>C	ENST00000322893.7	-	4	610	c.342A>G	c.(340-342)atA>atG	p.I114M	KCNH5_ENST00000394964.2_Missense_Mutation_p.I56M|KCNH5_ENST00000420622.2_Missense_Mutation_p.I114M|KCNH5_ENST00000394968.1_Missense_Mutation_p.I56M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	114	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			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)		GTTCATTTCTTATTGGTGCAA	0.403000													5	37					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451450	19451450	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:19451450G>A	ENST00000396229.2	+	3	839	c.90G>A	c.(88-90)ttG>ttA	p.L30L	TMC5_ENST00000381414.4_Silent_p.L30L|TMC5_ENST00000542583.2_Silent_p.L30L|TMC5_ENST00000541464.1_Silent_p.L30L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	30						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGGTATTTGAAAACTCAAG	0.498000													18	67					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762533	92762533	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:92762533C>T	ENST00000318238.4	-	5	3968	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E918K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E918K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	918										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)			AGTTGTGCTTCCTTGCTGTCA	0.338000													4	26					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645327	122645327	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:122645327C>T	ENST00000195173.4	-	9	1351	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G350S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G404S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	350	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGACCTCGCCCGGGCGGGAG	0.602000													16	42					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4949351	4949351	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:4949351G>A	ENST00000345988.2	-	7	730	c.641C>T	c.(640-642)tCg>tTg	p.S214L	PPL_ENST00000590782.2_Missense_Mutation_p.S212L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	214					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTCCTGCAGCGAACTCAGGTG	0.647000													6	49					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68591929	68591929	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:68591929G>A	ENST00000262348.4	-	12	1859	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	WLS_ENST00000370976.3_Missense_Mutation_p.R445C|WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Intron|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	536					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCCTCCTTGCGGGTCAACTTG	0.602000													5	54					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788966	52788966	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:52788966G>A	ENST00000257974.2	-	9	1412	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	445	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGCGCCTTTGGAGCTGCTCA	0.627000													9	34					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584379	101584379	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101584379G>A	ENST00000536262.2	-	6	1258	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	234					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAGGGTTAGGATTAAAACTA	0.378000													4	27					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832141	24832141	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:24832141G>A	ENST00000376451.2	+	14	3251	c.2991G>A	c.(2989-2991)acG>acA	p.T997T	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.T1314T|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1314					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCAAAATACGGATAAGTGTC	0.418000													22	66					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38035943	38035943	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38035943C>T	ENST00000283713.6	+	4	593	c.327C>T	c.(325-327)ttC>ttT	p.F109F	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.F109F			O15195	VILL_HUMAN	villin-like	109					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTACTTCCGCCCGGGAA	0.697000													12	50					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813252	2813252	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2813252C>T	ENST00000520002.1	-	65	10411	c.9856G>A	c.(9856-9858)Gat>Aat	p.D3286N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D3285N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3108N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3109N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3109N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3286N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3286	Sushi 28.					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)		GCTCTCACATCCGCGTGTGCC	0.478000													20	109					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230099	103230099	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103230099C>T	ENST00000428762.1	-	28	4248	c.4089G>A	c.(4087-4089)ggG>ggA	p.G1363G	RELN_ENST00000343529.5_Silent_p.G1363G|RELN_ENST00000424685.2_Silent_p.G1363G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1363					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCAAAGTCCCCTGTGTGAT	0.453000													16	133					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984583	128984583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:128984583G>A	ENST00000274487.4	+	13	2223	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTGGATTCAGAGACTGGCAA	0.448000													27	130					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732864	80732864	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:80732864G>A	ENST00000458043.2	+	42	4849	c.4843G>A	c.(4843-4845)Gat>Aat	p.D1615N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1603N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGTAGAAGTGGATTCCATTGT	0.318000													3	31					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276826	152276826	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152276826C>T	ENST00000368799.1	-	3	10571	c.10536G>A	c.(10534-10536)caG>caA	p.Q3512Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3512	Ser-rich.		Q -> R (in dbSNP:rs12407748).		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)			AGCTGTCCGCCTGAGTGGAAG	0.562000									Ichthyosis				48	300					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364072	5364072	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5364072G>A	ENST00000300773.2	-	1	737	c.683C>T	c.(682-684)tCc>tTc	p.S228F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTCTGGAGGCAATGCT	0.443000													14	95					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753355	13753355	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13753355C>T	ENST00000265104.4	-	63	10963	c.10859G>A	c.(10858-10860)cGa>cAa	p.R3620Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3620	AAA 5 (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)					GAGTTCATTTCGGCTTTCTTT	0.333000									Kartagener syndrome				7	30					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819688	159819688	+	RNA	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:159819688C>A	ENST00000497452.1	-	0	517																											CTTCTCCATCCTGTGGATCCC	0.488000													31	105					1.7881e-09	1.80812e-09	1	1	0
TMEM150C	441027	broad.mit.edu	37	4	83423930	83423930	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:83423930G>A	ENST00000449862.2	-	5	503	c.185C>T	c.(184-186)cCt>cTt	p.P62L	TMEM150C_ENST00000508701.1_Missense_Mutation_p.P62L|TMEM150C_ENST00000515780.1_Missense_Mutation_p.P62L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	62						integral to membrane				ovary(1)	1						GCTTGCAGGAGGATCATCACC	0.383000													4	6					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73688040	73688040	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:73688040G>A	ENST00000310473.3	-	5	1202	c.360C>T	c.(358-360)ctC>ctT	p.L120L	UCP2_ENST00000536983.1_Silent_p.L120L	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	120					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TGCCTGCTAGGAGGCGGCTCC	0.632000													27	82					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070743	70070743	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:70070743G>A	ENST00000330891.5	-	7	1046	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.P274S|BEST3_ENST00000553096.1_Missense_Mutation_p.P168S|BEST3_ENST00000488961.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	274						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAAGATGGGAATGTAAAGA	0.483000													21	95					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24730925	24730925	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:24730925G>A	ENST00000206765.6	-	3	607	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	162					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGGGTGATGCGATCAGAGGAT	0.572000													29	137					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310841	124310841	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124310841G>A	ENST00000328064.2	-	1	213	c.141C>T	c.(139-141)acC>acT	p.T47T		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCTTATCAGGGTTATCAAGC	0.483000													18	77					0	0	1	0	0
VAMP2	6844	broad.mit.edu	37	17	8064826	8064826	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8064826C>A	ENST00000316509.6	-	4	394	c.299G>T	c.(298-300)gGa>gTa	p.G100V	VAMP2_ENST00000488857.1_Missense_Mutation_p.G102V|RP11-599B13.6_ENST00000498285.1_Missense_Mutation_p.G100V|VAMP2_ENST00000481878.1_Missense_Mutation_p.G100V|VAMP2_ENST00000404970.3_Missense_Mutation_p.G55V	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	100					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	GCAAATCACTCCCAAGATGAT	0.527000													8	62					2.17888e-05	2.19037e-05	1	1	0
TFCP2L1	29842	broad.mit.edu	37	2	122005828	122005828	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:122005828C>T	ENST00000263707.5	-	5	513	c.416G>A	c.(415-417)gGt>gAt	p.G139D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	139					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCCAAGATACCAACAGACAG	0.517000													18	43					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480404	56480404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:56480404G>A	ENST00000267101.3	+	4	951	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D112N	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	171					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGGGACCGAGATGCTGAGAT	0.498000													29	160					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73998612	73998612	+	Silent	SNP	C	C	G	rs61747000	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:73998612C>G	ENST00000425876.2	+	5	595	c.507C>G	c.(505-507)cgC>cgG	p.R169R	CDK3_ENST00000448471.1_Silent_p.R169R|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TGTGGTATCGCGCCCCCGAGA	0.542000													13	58					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162482589	162482589	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:162482589C>T	ENST00000489294.1	+	6	1158	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	UHMK1_ENST00000545294.1_Missense_Mutation_p.L260F|UHMK1_ENST00000538489.1_Missense_Mutation_p.L334F|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	334	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGATGATTATCTTGAGAATGA	0.328000													19	108					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69433930C>T	ENST00000317746.2	-	1	315	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000													10	56					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131539494	131539494	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:131539494G>A	ENST00000401867.1	-	11	1766	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	P4HA2_ENST00000379104.2_Missense_Mutation_p.R400C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R400C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R400C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R400C|P4HA2_ENST00000360568.3_Missense_Mutation_p.R400C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	400						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGCATCCGACGATTTACTCGG	0.483000													4	38					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436428	25436428	+	RNA	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:25436428C>G	ENST00000424208.1	+	0	1023				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CCCACTGGCTCTGGGCTCAGC	0.622000													4	26					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586423	143586423	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:143586423C>T	ENST00000507359.2	+	2	1237	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KCTD16_ENST00000512467.1_Missense_Mutation_p.S49F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	49	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCCTCATTCCCTCCTGTGG	0.478000													14	54					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63231068	63231068	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:63231068C>T	ENST00000540857.1	-	6	850		c.e6-1		HRASLS5_ENST00000301790.4_Splice_Site|HRASLS5_ENST00000539221.1_Splice_Site	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5											endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CGTGCTCTACCTGCAAAGCAC	0.522000													9	66					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471417	146471417	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:146471417C>T	ENST00000361727.3	+	2	668	c.152C>T	c.(151-153)tCc>tTc	p.S51F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	51	F5/8 type C.				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)			TTCAGCAGCTCCTCCTCCATC	0.418000										HNSCC(39;0.1)			3	49					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618856	37618856	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:37618856C>T	ENST00000399151.3	+	19	4663	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1526					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCACGCATTCCTTGCCCTACT	0.562000													14	64					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278963	215278963	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:215278963C>T	ENST00000312504.5	+	2	848	c.46C>T	c.(46-48)Cct>Tct	p.P16S	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.P16S	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	16						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GTTGGTCATCCCTGGATTGGT	0.433000													14	43					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281441	4281441	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:4281441C>T	ENST00000404826.2	+	43	6286	c.6147C>T	c.(6145-6147)acC>acT	p.T2049T	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.T2029T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2049					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGATCTCCACCATGGAGGAGT	0.602000													13	46					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57938121	57938121	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:57938121G>A	ENST00000216445.3	-	6	979	c.843C>T	c.(841-843)acC>acT	p.T281T	C14orf105_ENST00000422976.2_Silent_p.T321T|C14orf105_ENST00000534126.1_Silent_p.T280T	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	281										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTCTGTCCTGGTCCTCACCA	0.448000													15	53					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37405908	37405908	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:37405908C>T	ENST00000520965.1	-	3	364	c.298G>A	c.(298-300)Gag>Aag	p.E100K	ZNF829_ENST00000391711.3_Missense_Mutation_p.E19K	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTTTCCTCCTCTTCTGGG	0.408000													11	40					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170893073	170893073	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:170893073C>T	ENST00000436636.2	-	9	1085	c.741G>A	c.(739-741)cgG>cgA	p.R247R	TNIK_ENST00000470834.1_Silent_p.R247R|TNIK_ENST00000284483.8_Silent_p.R247R|TNIK_ENST00000341852.6_Silent_p.R247R|TNIK_ENST00000357327.5_Silent_p.R247R|TNIK_ENST00000475336.1_Silent_p.R247R|TNIK_ENST00000369326.5_Silent_p.R247R|TNIK_ENST00000460047.1_Silent_p.R247R|TNIK_ENST00000538048.1_Silent_p.R247R|TNIK_ENST00000488470.1_Silent_p.R247R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	247	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCGCTGGGTTCCGGGGGATGA	0.512000													3	18					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754495	76754495	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:76754495C>T	ENST00000536229.3	+	1	2814	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	SALL3_ENST00000575389.2_Missense_Mutation_p.S835L|SALL3_ENST00000537592.2_Missense_Mutation_p.S835L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCGCCCTCGGTCATCTCC	0.657000													12	60					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	45					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909780	71909780	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:71909780C>T	ENST00000258104.3	+	54	6454	c.6177C>T	c.(6175-6177)ttC>ttT	p.F2059F	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.F2090F|DYSF_ENST00000429174.2_Silent_p.F2080F|DYSF_ENST00000409762.1_Silent_p.F2076F|DYSF_ENST00000409744.1_Silent_p.F2067F|DYSF_ENST00000410041.1_Silent_p.F2077F|DYSF_ENST00000409582.3_Silent_p.F2097F|DYSF_ENST00000409366.1_Silent_p.F2081F|DYSF_ENST00000394120.2_Silent_p.F2060F|DYSF_ENST00000409651.1_Silent_p.F2091F|DYSF_ENST00000410020.3_Silent_p.F2098F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2059						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCTGCTGTTCCTGGCCATCT	0.542000													10	36					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2378579	2378579	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:2378579C>T	ENST00000202625.2	+	5	620	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.L187L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	187					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGAGGACATCCTGAACATCTG	0.602000													24	69					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263268	248263268	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248263268G>A	ENST00000366478.2	+	3	928	c.591G>A	c.(589-591)atG>atA	p.M197I	OR2L13_ENST00000358120.2_Missense_Mutation_p.M197I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATGAATATATGGTTTTTGTAA	0.438000													17	65					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400711	11400711	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11400711G>A	ENST00000227756.4	-	4	1107	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCCTGGAGCGGATGAGGCCTT	0.582000													5	48					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397441	13397441	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:13397441G>A	ENST00000360228.5	-	20	3428	c.3429C>T	c.(3427-3429)agC>agT	p.S1143S	CACNA1A_ENST00000573710.2_Silent_p.S1144S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1144					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGACGATAAGGCTATTCTCGG	0.662000													10	37					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88707124	88707124	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88707124C>T	ENST00000340700.5	-	3	879	c.428G>A	c.(427-429)gGa>gAa	p.G143E	KCNK10_ENST00000319231.5_Missense_Mutation_p.G148E|KCNK10_ENST00000312350.5_Missense_Mutation_p.G148E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGAAGAGTTTCCTATTGGACT	0.418000													11	58					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462303	74462303	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:74462303G>A	ENST00000394019.2	-	22	2755	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	SLC4A5_ENST00000423644.1_Silent_p.S786S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.S786S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.S786S|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Silent_p.S786S|SLC4A5_ENST00000346834.4_Silent_p.S786S|SLC4A5_ENST00000359484.4_Intron	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	786						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACATCAGGATGGAGAAAACAA	0.537000													24	61					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145727	107145727	+	Silent	SNP	G	G	A	rs144052492	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:107145727G>A	ENST00000245323.4	-	5	812	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	221					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCGGAACCGAGGATGTTGT	0.532000													26	121					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319622	21319622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:21319622G>A	ENST00000583088.1	+	3	1863	c.968G>A	c.(967-969)tGg>tAg	p.W323*	KCNJ12_ENST00000331718.5_Nonsense_Mutation_p.W323*	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.W323L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGATCCTGTGGGGTCACCGC	0.587000										Prostate(3;0.18)			8	245					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38977341	38977341	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38977341T>C	ENST00000269576.5	-	2	665	c.656A>G	c.(655-657)aAc>aGc	p.N219S	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	219	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AAGCAGGATGTTGGCATTATC	0.428000													14	67					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248376	48248376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:48248376G>A	ENST00000400384.2	+	4	1796	c.760G>A	c.(760-762)Gac>Aac	p.D254N	MAPK4_ENST00000540640.1_Missense_Mutation_p.D43N|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	254	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGAAGACAAGGACGAGCTGCT	0.577000													14	45					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	81006361	81006361	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:81006361G>A	ENST00000320865.3	-	3	276	c.263C>T	c.(262-264)cCc>cTc	p.P88L	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	88							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTAGGAGAGGGAGAATCGTG	0.418000													8	81					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154632	14154632	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:14154632C>T	ENST00000295767.5	-	4	547	c.223G>A	c.(223-225)Ggt>Agt	p.G75S	CHCHD4_ENST00000396914.3_Missense_Mutation_p.G62S	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	62	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCACAGGGACCGCTGGCCATT	0.493000													17	86					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845151	248845151	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248845151G>A	ENST00000342623.3	-	1	478	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	152					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						GGCTGCGTAGGAAAAGCAGCT	0.552000													8	44					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283333	113283333	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:113283333C>T	ENST00000362072.3	-	7	1427	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	DRD2_ENST00000355319.2_Silent_p.R363R|DRD2_ENST00000542968.1_Silent_p.R361R|DRD2_ENST00000346454.3_Silent_p.R332R|DRD2_ENST00000544518.1_Silent_p.R360R|DRD2_ENST00000538967.1_Silent_p.R363R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	361	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGAGAGCTTCCTACGGCTCA	0.567000													22	84					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:238245121C>T	ENST00000295550.4	-	40	9074	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_ENST00000353578.4_Silent_p.T2668T|COL6A3_ENST00000347401.3_Silent_p.T2673T|COL6A3_ENST00000346358.4_Silent_p.T2674T|COL6A3_ENST00000472056.1_Silent_p.T2267T|COL6A3_ENST00000409809.1_Silent_p.T2668T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2874	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCGGCTTCGTTGTCGTCA	0.433000													84	131					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310283	168310283	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:168310283C>T	ENST00000519560.1	-	5	891	c.472G>A	c.(472-474)Gat>Aat	p.D158N	SLIT3_ENST00000404867.3_Missense_Mutation_p.D158N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D158N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	158					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)			TTCTTCACATCGGTGATGCCG	0.507000													17	65					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43102988	43102988	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:43102988G>A	ENST00000428554.2	+	18	2720	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CCDC30_ENST00000340612.4_Missense_Mutation_p.R526Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.R315Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R526Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R315Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	526										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTAGAACTACGAGATAAGAGA	0.303000													7	36					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289311	62289311	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:62289311C>T	ENST00000519846.1	+	4	1075	c.603C>T	c.(601-603)atC>atT	p.I201I	CLVS1_ENST00000325897.4_Silent_p.I201I|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	201	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACCTTCAATCCTTAAACTGG	0.378000													8	34					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35971754	35971754	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:35971754G>A	ENST00000297866.5	+	7	1158	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	364										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATACAGACAGGACTATGCTC	0.323000													11	28					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647961	121647961	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121647961C>T	ENST00000489711.1	+	16	1862	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R461C|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	492					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTGTCATTCGTGAAGATGG	0.398000													51	202					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40589045	40589045	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40589045C>T	ENST00000450241.2	-	4	318	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ZNF780A_ENST00000594395.1_Missense_Mutation_p.E37K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Missense_Mutation_p.E53K|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E37K|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E37K|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E37K			O75290	Z780A_HUMAN	zinc finger protein 780A	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTGTAGTTCTCCAACATCACA	0.478000													21	148					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15745972	15745972	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:15745972G>A	ENST00000285667.3	-	5	1449	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	HSPA13_ENST00000544452.1_Missense_Mutation_p.P253L	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	461						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCTTATTGGGAATTTCTAA	0.413000													7	56					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327544	67327544	+	Silent	SNP	C	C	T	rs143567769		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:67327544C>T	ENST00000304372.5	-	12	2176	c.2121G>A	c.(2119-2121)gcG>gcA	p.A707A		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	707						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A707A(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGTCTTTCGCTCCAGCTC	0.602000													21	76					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729321	35729321	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:35729321G>A	ENST00000187397.4	+	6	808	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ARPP21_ENST00000337271.5_Missense_Mutation_p.D118N|ARPP21_ENST00000458225.1_Missense_Mutation_p.D118N|ARPP21_ENST00000417925.1_Missense_Mutation_p.D118N|ARPP21_ENST00000444190.1_Missense_Mutation_p.D118N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	118						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAAGAAAAGGATAAAAACAA	0.353000													15	41					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509206	110509206	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:110509206G>A	ENST00000378402.5	+	64	10490	c.10386G>A	c.(10384-10386)ggG>ggA	p.G3462G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3462					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)			GTTTATATGGGATCTATATGA	0.383000										HNSCC(38;0.096)			20	68					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881986	26881986	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:26881986C>T	ENST00000308360.7	-	11	1650	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	PIGS_ENST00000543734.1_Silent_p.R364R|PIGS_ENST00000395346.2_Silent_p.R417R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	425					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCAGAGCAGCCGGTCTAGCT	0.582000													10	52					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396258	139396258	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139396258G>A	ENST00000277541.6	-	30	5655	c.5580C>T	c.(5578-5580)ccC>ccT	p.P1860P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1860					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGGCGGTGTGGGGGCCATGG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	42					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													12	43					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543080	10543080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10543080G>A	ENST00000583535.1	-	23	2809	c.2722C>T	c.(2722-2724)Cag>Tag	p.Q908*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q908*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	908					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGATCAGCTGATCGCATCTT	0.418000													33	81					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261887	21261887	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21261887G>A	ENST00000311620.5	+	2	1073	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	334								p.D334N(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTGGGATGACGATGAAGTGGA	0.517000													18	52					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900363	13900363	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13900363G>A	ENST00000265104.4	-	15	2315	c.2211C>T	c.(2209-2211)tcC>tcT	p.S737S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	737	Stem (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)					TCTGGAAGAGGGAAGTTGCCA	0.403000									Kartagener syndrome				7	63					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60720806	60720806	+	Missense_Mutation	SNP	A	A	G	rs148318569		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:60720806A>G	ENST00000261520.4	-	15	2876	c.2642T>C	c.(2641-2643)gTt>gCt	p.V881A	NARG2_ENST00000439632.1_Missense_Mutation_p.V744A	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	881						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGTCCTAGTAACTTTTCCATC	0.438000													9	39					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928611	58928611	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58928611T>A	ENST00000306910.4	+	4	1249	c.726T>A	c.(724-726)ttT>ttA	p.F242L	ZNF584_ENST00000593920.1_Missense_Mutation_p.F197L|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		TAAAACCTTTTAAGTGTAGTG	0.468000													5	42					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517989	138517989	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138517989G>A	ENST00000371763.1	-	4	436	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	61					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.F61F(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCCGCCTGTCGAAAGTCCCTT	0.507000													12	75					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134093	22134093	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22134093C>T	ENST00000408935.1	+	1	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	266					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)		ACCAGCTTCTCCATTGACAAG	0.507000													7	29					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701236	16701236	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:16701236C>T	ENST00000513610.1	-	25	3722	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	MYO10_ENST00000505695.1_Missense_Mutation_p.D429N|MYO10_ENST00000274203.9_Missense_Mutation_p.D447N|MYO10_ENST00000427430.2_Missense_Mutation_p.D447N|MYO10_ENST00000515803.1_Missense_Mutation_p.D429N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1090					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTCGTAGTCGTAGTCGCCG	0.632000													5	13					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046571	73046571	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:73046571G>A	ENST00000335350.6	+	5	1094	c.678G>A	c.(676-678)gtG>gtA	p.V226V	UNC5B_ENST00000373192.4_Silent_p.V226V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	226	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATACCTGCGTGGCCAAGAACA	0.632000													51	234					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547851	228547851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:228547851G>A	ENST00000284548.11	+	81	19332	c.19258G>A	c.(19258-19260)Gag>Aag	p.E6420K	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.E3539K|OBSCN_ENST00000422127.1_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCTGGAGGAGGAGGGCAC	0.647000													4	13					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:198267484G>A	ENST00000335508.5	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433000			Mis		myelodysplastic syndrome								11	45					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666738	50666738	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:50666738C>T	ENST00000371824.1	+	7	1246	c.989C>T	c.(988-990)aCc>aTc	p.T330I	ELAVL4_ENST00000371821.1_Missense_Mutation_p.T349I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T330I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T347I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T335I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T344I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T333I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	344	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGCTTTGTCACCATGACCAAC	0.522000													17	86					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453000													9	57					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													6	44					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184479	197184479	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:197184479C>T	ENST00000260983.2	-	9	1317	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	HECW2_ENST00000409111.1_Missense_Mutation_p.D23N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGGTTCCATCGGCAGCACTG	0.542000													10	110					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850880	13850880	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13850880G>A	ENST00000265104.4	-	31	5099	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1665	Stem (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)					CCCGAGTCATGATCTTCACCC	0.463000									Kartagener syndrome				16	80					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757842	62757842	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:62757842C>T	ENST00000281156.4	-	3	555	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	93	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTGTTTCTTCCTGTAGCCTC	0.373000													9	70					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794020	21794020	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:21794020G>A	ENST00000206660.6	+	16	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E159K|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E762K|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E800K|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	800					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)		ACCTCAGAACGAGCTGTGGAT	0.502000													9	36					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67076896	67076896	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:67076896G>A	ENST00000308127.4	+	11	1268	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	SSH3_ENST00000376757.5_Missense_Mutation_p.E364K|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	364	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATGGCCCGGGAGATTGACAA	0.627000													20	110					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235336015	235336015	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:235336015G>A	ENST00000264183.3	-	23	4226	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	ARID4B_ENST00000349213.3_Silent_p.I1157I|ARID4B_ENST00000366603.2_Silent_p.I1243I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1243				IR -> NQ (in Ref. 3; AAF23433 and 10; AAD41239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AATGTTTTCTGATTTCTTGAA	0.318000													4	20					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945212	96945212	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:96945212G>A	ENST00000389672.5	+	4	1257	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E407K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	312	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E313K(2)|p.E407K(1)		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						CTGTCAGTGTGAAAAGGGTTA	0.398000													44	136					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254364	3254364	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3254364C>T	ENST00000304646.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GGCCACTGTCCTGGGGAACCT	0.557000													10	97					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329491	33329491	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:33329491C>T	ENST00000374796.2	-	12	7139	c.4569G>A	c.(4567-4569)gaG>gaA	p.E1523E	NCOA6_ENST00000359003.2_Silent_p.E1523E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1523					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTTGAGGTCCTCCCCAGAAA	0.443000													10	56					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559843	33559843	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33559843C>T	ENST00000228567.3	-	3	1254	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SYT10_ENST00000535526.1_Missense_Mutation_p.D139N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	320	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCAAAATCATACACACTG	0.363000													11	42					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453639	114453639	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:114453639C>T	ENST00000375478.3	-	3	381	c.201G>A	c.(199-201)gaG>gaA	p.E67E	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGAGTTCAGTCTCTGTTAGTG	0.448000													40	158					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509073	140509073	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140509073G>A	ENST00000371421.4	+	7	922	c.858G>A	c.(856-858)gtG>gtA	p.V286V	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	286										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		ATATTGCTGTGAACCATGCCC	0.672000													20	87					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990798	20990798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20990798G>A	ENST00000261383.3	-	50	7929	c.7930C>T	c.(7930-7932)Cga>Tga	p.R2644*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTGTCTTCGAAGTTTGTTG	0.478000													15	80					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400826	47400826	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47400826C>T	ENST00000310638.4	-	6	667	c.635_splice	c.e6-1	p.R212_splice	CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Splice_Site_p.R212_splice|CYP4A11_ENST00000371905.1_Splice_Site_p.R212_splice	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	212					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACTGAGAATTCCTGAGGGAGA	0.517000													10	89					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784543	9784543	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:9784543C>T	ENST00000304374.2	+	1	1286	c.890C>T	c.(889-891)aCc>aTc	p.T297I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTTCTCAAGACCCTGTCGGTG	0.632000													9	68					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243522	10243522	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10243522C>T	ENST00000418404.3	-	17	2164	c.2001G>A	c.(1999-2001)agG>agA	p.R667R	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.R667R|MYH13_ENST00000570743.1_Silent_p.R667R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	667	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTGGGTGCTCCTTAAGTTAG	0.418000													7	33					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770839	35770839	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:35770839C>T	ENST00000187397.4	+	15	1726	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	ARPP21_ENST00000337271.5_Missense_Mutation_p.R370C|ARPP21_ENST00000458225.1_Missense_Mutation_p.R390C|ARPP21_ENST00000417925.1_Missense_Mutation_p.R390C|ARPP21_ENST00000444190.1_Missense_Mutation_p.R370C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	424						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCGCTGTCCCGCACCCATCC	0.552000													14	74					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537756	2537756	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2537756G>A	ENST00000288709.6	-	8	894	c.654C>T	c.(652-654)ttC>ttT	p.F218F	MMEL1_ENST00000378412.3_Silent_p.F227F|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	227					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGCGCCTGTTGAACTGTGAGT	0.662000													11	45					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6921782	6921782	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:6921782G>A	ENST00000312053.4	+	14	1716	c.1679G>A	c.(1678-1680)gGa>gAa	p.G560E	EMR1_ENST00000381407.5_Missense_Mutation_p.G419E|EMR1_ENST00000450315.3_Missense_Mutation_p.G383E|EMR1_ENST00000381404.4_Missense_Mutation_p.G508E|EMR1_ENST00000250572.8_Missense_Mutation_p.G560E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	560	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GTGAAGGGTGGAAGATGGACA	0.438000													14	49					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52051236	52051236	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:52051236C>T	ENST00000340057.1	+	1	52	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	3					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACGATGACTCCTGGGAAGAC	0.483000													7	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597238	179597238	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179597238G>A	ENST00000589042.1	-	56	16774	c.16550C>T	c.(16549-16551)tCg>tTg	p.S5517L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4273L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S5200L|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5200	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4273L(1)		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)			GTACGTGCCCGAATCAGAGGT	0.418000													17	15					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96230192	96230192	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:96230192G>A	ENST00000376873.3	+	5	835	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	CLDN10_ENST00000299339.2_Missense_Mutation_p.R204Q	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	204					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			ATGTCTTCTCGGACAAAGTAT	0.388000													10	43					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21560352	21560352	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:21560352C>T	ENST00000524240.1	-	7	1833	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	GFRA2_ENST00000518077.1_Missense_Mutation_p.G262R|GFRA2_ENST00000517328.1_Missense_Mutation_p.G395R|GFRA2_ENST00000400782.4_Missense_Mutation_p.G290R	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	395						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACACTGGTCCCCAAGCTGGTA	0.617000													5	41					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818161	96818161	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96818161T>G	ENST00000371270.3	-	5	844	c.750A>C	c.(748-750)gaA>gaC	p.E250D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E148D|CYP2C8_ENST00000539050.1_Missense_Mutation_p.E164D	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	250					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)	ATGCTTGGTGTTCTTTTACTT	0.373000													10	23					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863241	6863241	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:6863241C>T	ENST00000307659.5	+	7	1587	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P378S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	378							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAGAAAAGATCCTGGGAGCAC	0.443000													14	48					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415300	65415300	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:65415300C>T	ENST00000330909.8	-	12	2061	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E688K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E688K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E688K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	688	PDZ 3.				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)		TTATTAACTTCCACTATGAGA	0.498000													8	72					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79418857	79418857	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:79418857C>T	ENST00000307745.7	+	16	4140	c.4140C>T	c.(4138-4140)atC>atT	p.I1380I																								GCATGCAGATCCTGCAGCGCA	0.711000													5	14					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117922329	117922329	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117922329C>T	ENST00000425217.1	-	16	2309	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.G781E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	781	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAGGATTCCCTTGGCGTG	0.512000													5	30					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332501	130332501	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647000													27	101					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833295	116833295	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:116833295C>T	ENST00000368599.3	+	1	487	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	146						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CAAGGGTAAGCCCAAAGAGTG	0.483000													6	42					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108110	35108110	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:35108110G>A	ENST00000378561.1	-	2	3217	c.162C>T	c.(160-162)tcC>tcT	p.S54S	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Silent_p.S54S|FAM214B_ENST00000378554.2_Silent_p.S54S|FAM214B_ENST00000605244.1_Silent_p.S54S|FAM214B_ENST00000488109.2_Silent_p.S54S|FAM214B_ENST00000322813.5_Silent_p.S54S|FAM214B_ENST00000378557.1_Silent_p.S54S			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	54						nucleus											CAGCCGGAGGGGAAAAGATGG	0.672000													3	26					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167162417	167162417	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:167162417C>T	ENST00000303354.6	-	5	824	c.484G>A	c.(484-486)Gga>Aga	p.G162R	SCN9A_ENST00000375387.4_Missense_Mutation_p.G162R|SCN9A_ENST00000409672.1_Missense_Mutation_p.G161R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G161R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	161						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTATATATTCCAGTAAAAGTG	0.348000													11	26					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040539	72040539	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:72040539G>A	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGTCCTTGGGATCAAAGCTT	0.403000													16	77					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807488	3807488	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3807488G>A	ENST00000361605.3	-	3	361	c.263C>T	c.(262-264)cCt>cTt	p.P88L	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	88										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		AGGGGTCTCAGGTGTCACTTT	0.498000													11	54					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826886	50826886	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50826886G>A	ENST00000376959.2	-	2	1487	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R442C			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	442					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R442C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GTGCTGGCGCGGAGCGTGTGT	0.642000													17	67					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356150	40356150	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:40356150C>T	ENST00000310169.2	+	5	1192	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	351					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTTGTTTGTCTATGATGTGG	0.547000													30	265					0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717260	2717260	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2717260G>A	ENST00000323469.4	-	2	728	c.545C>T	c.(544-546)tCc>tTc	p.S182F	DIRAS1_ENST00000585334.1_Missense_Mutation_p.S182F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	182					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTTCCCGGAGCGCTTGCC	0.647000													33	184					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107561	55107561	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:55107561C>T	ENST00000474759.1	+	36	3125	c.3077C>T	c.(3076-3078)aCc>aTc	p.T1026I	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.T1026I|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.T1026I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.T932I|CACNA2D3_ENST00000478261.1_Intron	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1026						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)		GCCCCCATCACCATGGCACCC	0.522000													18	57					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899597	128899597	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:128899597C>T	ENST00000435159.2	+	2	406	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGCCCACATCCTGCGGGACAA	0.498000													5	7					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48244987	48244987	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48244987G>A	ENST00000262018.3	+	3	238	c.202G>A	c.(202-204)Gga>Aga	p.G68R	SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.G68R|SGCA_ENST00000543315.1_Missense_Mutation_p.G68R|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	68			G -> E (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCACCTCCAGGGACACCCAGA	0.672000													22	91					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	46					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872264	213872264	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:213872264C>T	ENST00000457361.1	-	8	1569	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	IKZF2_ENST00000451136.2_Silent_p.Q395Q|IKZF2_ENST00000421754.2_Silent_p.Q393Q|IKZF2_ENST00000374319.4_Silent_p.Q441Q|IKZF2_ENST00000374327.4_Silent_p.Q322Q|IKZF2_ENST00000342002.2_Silent_p.Q473Q|IKZF2_ENST00000434687.1_Silent_p.Q467Q|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGGCCCTAATCTGTTCTCCTT	0.493000													22	92					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43363110	43363110	+	Missense_Mutation	SNP	G	G	A	rs145854171		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:43363110G>A	ENST00000290650.4	-	5	620	c.542C>T	c.(541-543)cCg>cTg	p.P181L	UBR1_ENST00000382177.2_Missense_Mutation_p.P181L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	181					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCATTCAACGGACAGCGTGA	0.328000													18	59					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254267	3254267	+	Silent	SNP	G	G	A	rs144582974		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3254267G>A	ENST00000304646.2	+	1	21	c.21G>A	c.(19-21)tcG>tcA	p.S7S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CAAACCAGTCGAGTGTCTCCG	0.557000													4	38					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459843	86459843	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:86459843G>A	ENST00000165698.5	-	6	643	c.500C>T	c.(499-501)cCc>cTc	p.P167L	REEP1_ENST00000540790.1_Missense_Mutation_p.P146L|REEP1_ENST00000535845.1_Missense_Mutation_p.P140L|REEP1_ENST00000541910.1_Missense_Mutation_p.P89S|REEP1_ENST00000538924.1_Missense_Mutation_p.P174L	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	167					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGCCCGAGGGAGCAGGGGC	0.652000													44	35					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505037	70505037	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:70505037C>T	ENST00000310961.5	+	22	3849	c.3431C>T	c.(3430-3432)cCa>cTa	p.P1144L	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1139L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P423L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1139						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAGCTGCCCCCAACTGATAGG	0.577000													16	96					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725335	38725335	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:38725335C>T	ENST00000409072.3	-	2	1205	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CACCCAATTTCCTGGTTTTCA	0.537000													34	111					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155658732	155658732	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:155658732C>T	ENST00000295566.4	-	1	59	c.36G>A	c.(34-36)acG>acA	p.T12T	YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_5'UTR|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_Intron|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCCTGGGTTCGTCGCCGCGG	0.706000													7	13					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700320	33700320	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:33700320G>A	ENST00000336934.5	-	7	2096	c.1980C>T	c.(1978-1980)gtC>gtT	p.V660V	STARD13_ENST00000255486.4_Silent_p.V652V|STARD13_ENST00000399365.3_Silent_p.V542V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	660					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAACGCCAAAGACAGCCTTGT	0.493000													36	167					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180327498	180327498	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:180327498C>T	ENST00000296015.4	+	12	1613	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.S494F|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	494	Poly-Ser.|Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCATCATCCTCTTCCTCTTCT	0.388000													11	37					0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169217	19169217	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:19169217G>A	ENST00000284881.4	-	3	436	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	C21orf91_ENST00000400559.3_Missense_Mutation_p.P116S|C21orf91_ENST00000400558.3_Missense_Mutation_p.P116S|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	116										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TGATGCTGGGGGTTTTTAGAA	0.353000													14	61					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762176	130762176	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:130762176G>A	ENST00000392429.1	+	2	2987	c.609G>A	c.(607-609)tcG>tcA	p.S203S	TMEM200A_ENST00000296978.3_Silent_p.S203S|TMEM200A_ENST00000545622.1_Silent_p.S203S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	203						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTGTGCCTCGAGATTGGCAG	0.463000													6	34					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582776	90582776	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:90582776C>T	ENST00000371930.4	-	6	709		c.e6-1		ANKRD22_ENST00000476963.1_Splice_Site	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22											NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TCTCACCATGCTGAGGGGGGA	0.423000													23	71					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072869	15072869	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15072869C>T	ENST00000598504.1	-	8	2239	c.880G>A	c.(880-882)Gac>Aac	p.D294N	SLC1A6_ENST00000544886.2_Missense_Mutation_p.D294N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D294N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D294N|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D230N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	294					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCGAAGAAGTCCCTGAGGACT	0.582000													18	79					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217805	7217805	+	Splice_Site	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7217805A>G	ENST00000575474.1	-	11	1696		c.e11+1		GPS2_ENST00000391950.3_Splice_Site|GPS2_ENST00000389167.5_Splice_Site|GPS2_ENST00000380728.2_Splice_Site														p.?(1)									GGGACTGCTTACTTGTTCCTT	0.448000													3	43					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446814	197446814	+	Silent	SNP	C	C	T	rs142057392		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:197446814C>T	ENST00000367400.3	+	12	4161	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S	CRB1_ENST00000367399.2_Silent_p.S1230S|CRB1_ENST00000544212.1_Silent_p.S823S|CRB1_ENST00000535699.1_Silent_p.S1318S|CRB1_ENST00000538660.1_Silent_p.S806S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1342					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTTGATCTCCGACATTTTCA	0.433000													7	37					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604378	80604378	+	Splice_Site	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:80604378A>G	ENST00000254037.2	+	2	3539		c.e2-1		ZCCHC9_ENST00000438268.2_Splice_Site|ZCCHC9_ENST00000407610.3_Splice_Site|ZCCHC9_ENST00000506458.1_Splice_Site|ZCCHC9_ENST00000380199.5_Splice_Site			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9								nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTGTTTTCCTAGGTGTGTTTC	0.393000													20	88					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246360	97246360	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:97246360C>T	ENST00000229955.3	-	2	1593	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	GPR63_ENST00000417980.1_Silent_p.R416R	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	416						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACACCACCGTCCGATGTTCCC	0.448000													11	45					0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83425749	83425749	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:83425749G>A	ENST00000449862.2	-	2	380	c.62C>T	c.(61-63)tCa>tTa	p.S21L	TMEM150C_ENST00000508701.1_Missense_Mutation_p.S21L|TMEM150C_ENST00000515780.1_Missense_Mutation_p.S21L	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	21						integral to membrane				ovary(1)	1						CAATCCAGCTGAAGTAAACAA	0.348000													4	24					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	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													8	45					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009503	5009503	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5009503C>T	ENST00000380390.1	+	2	278	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MMP26_ENST00000300762.1_Missense_Mutation_p.P21L|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	21					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCCAGTGCCCCCTGCTGCA	0.488000													23	136					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226793	139226793	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:139226793G>A	ENST00000422142.2	+	4	531	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	153	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TCACGCGGAGGGAGCCCTGGA	0.552000													4	35					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764323	110764323	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:110764323A>G	ENST00000451085.1	+	4	2541	c.1495A>G	c.(1495-1497)Act>Gct	p.T499A	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T499A|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.T499A|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	499	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTGTATAGCAACTAACCTAGT	0.378000													6	49					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566262	5566262	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566262G>A	ENST00000322653.4	-	1	517	c.492C>T	c.(490-492)atC>atT	p.I164I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTGGCAGGATGATGCAGA	0.493000													5	50					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542709	126542709	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:126542709C>T	ENST00000339582.2	-	6	1851	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	GRM8_ENST00000444921.2_Missense_Mutation_p.R348Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.R348Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R348Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	348					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCAAGAGTTCGGCTTCTAAA	0.343000										HNSCC(24;0.065)			4	60					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051447	17051447	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:17051447C>T	ENST00000418129.2	+	2	696	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PLCL2_ENST00000396755.2_Silent_p.F77F|PLCL2_ENST00000432376.1_Silent_p.F77F|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	203					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGACATATTCCGCAGCAATG	0.428000													25	120					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57987836	57987836	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:57987836C>T	ENST00000354947.5	+	2	219	c.203C>T	c.(202-204)cCg>cTg	p.P68L	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.P68L|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.P68L|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.P68L			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	68	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTGCCTCCCCCGGTGATGCTG	0.502000													17	64					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723868	142723868	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142723868G>A	ENST00000350513.2	-	1	414	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GCCACATAACGGTCCACAGCC	0.448000													45	54					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20295729G>A	ENST00000568211.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000													33	163					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181595	41181595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41181595C>T	ENST00000263413.3	-	7	1057	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.E265K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	265	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E265*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGATTTTCATTGTGTCCA	0.343000													3	31					0	0	1	0	0
LGALS16	148003	broad.mit.edu	37	19	40151153	40151153	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40151153G>A	ENST00000392051.3	+	4	490	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001190441.1	NP_001177370.1	A8MUM7	A8MUM7_HUMAN	lectin, galactoside-binding, soluble, 16	141							sugar binding										AACAATGGACGGAGATGATCA	0.473000													4	6					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204596	45204596	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:45204596C>T	ENST00000263765.4	+	5	759	c.510C>T	c.(508-510)atC>atT	p.I170I	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Silent_p.I170I|PRDM11_ENST00000424263.2_Silent_p.I136I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	170	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ACGAGGTCATCCCCAAGGGCC	0.602000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	42					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583323	7583323	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:7583323G>A	ENST00000379802.3	+	24	6169	c.5828G>A	c.(5827-5829)aGa>aAa	p.R1943K	DSP_ENST00000418664.2_Missense_Mutation_p.R1344K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1943	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATAAACTCAGACAGCGCCCA	0.527000													10	54					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525587	76525587	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:76525587C>T	ENST00000389840.5	-	22	3598	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E	DNAH17_ENST00000585328.1_Silent_p.E1155E					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)			CTGGCATCTCCTCCCCGTAGG	0.597000													35	130					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596241	148596241	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:148596241G>A	ENST00000296046.3	+	4	335	c.283G>A	c.(283-285)Gat>Aat	p.D95N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	95					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTGATTCATGATCTACAAGA	0.338000													18	79					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363221	40363221	+	Missense_Mutation	SNP	C	C	T	rs140298192		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40363221C>T	ENST00000221347.6	-	32	14856	c.14849G>A	c.(14848-14850)cGa>cAa	p.R4950Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4950	VWFD 12.					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)			AACCATGTTTCGGCCCTCGGC	0.667000													5	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999056	8999056	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8999056G>A	ENST00000397910.4	-	57	40991	c.40788C>T	c.(40786-40788)ttC>ttT	p.F13596F	MUC16_ENST00000380951.5_Silent_p.F237F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13598				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F281F(1)|p.F13596F(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						TCCGCTGTGTGAAACCTGCAT	0.537000													11	40					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428698	57428698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:57428698G>A	ENST00000306120.3	+	1	188	c.188G>A	c.(187-189)gGg>gAg	p.G63E	GNAS_ENST00000371100.4_Silent_p.G126G|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.G126G|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.G126G			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCCCCAGTGGGGTCCATGCAG	0.637000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			11	44					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526461	54526461	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:54526461G>A	ENST00000566473.2	+	10	1130	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R377K			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	377										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TATGACGACAGAGAGCCCAGA	0.478000													16	50					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117954	79117954	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:79117954G>A	ENST00000442371.1	+	3	1596	c.657G>A	c.(655-657)atG>atA	p.M219I	GCNT1_ENST00000376730.4_Missense_Mutation_p.M219I|GCNT1_ENST00000536223.1_Missense_Mutation_p.M219I|GCNT1_ENST00000444201.2_Missense_Mutation_p.M219I	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	219	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGTGGTATGGATTTTCCCA	0.428000													15	51					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419882	41419882	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41419882C>T	ENST00000373198.3	-	3	674	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	PTPRT_ENST00000356100.2_Missense_Mutation_p.V147M|PTPRT_ENST00000373187.1_Missense_Mutation_p.V147M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V147M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V147M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V147M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V147M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	147	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTGCCTTCACCCAGCCCTCA	0.498000													22	145					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	32983862	32983862	+	Silent	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:32983862A>G	ENST00000375030.2	+	9	963	c.345A>G	c.(343-345)tcA>tcG	p.S115S	C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Silent_p.S107S			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	107										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATTCAGTGTCAAAACTGGAAA	0.299000													8	40					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895503	33895503	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:33895503G>A	ENST00000389232.4	+	18	2172	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	RYR3_ENST00000415757.3_Missense_Mutation_p.G701E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	701	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGGATGGGGAGGCAATGGT	0.547000													41	172					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038131	185038131	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:185038131C>T	ENST00000296741.2	-	5	874	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	245					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAAAATGTCGGTCATTCCG	0.532000													11	42					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38153409	38153409	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:38153409T>C	ENST00000379747.4	-	13	1865	c.1748A>G	c.(1747-1749)aAc>aGc	p.N583S	POSTN_ENST00000379742.4_Missense_Mutation_p.N583S|POSTN_ENST00000541481.1_Missense_Mutation_p.N583S|POSTN_ENST00000379749.4_Missense_Mutation_p.N583S|POSTN_ENST00000541179.1_Missense_Mutation_p.N583S|POSTN_ENST00000379743.4_Missense_Mutation_p.N583S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	583	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTTAAAATGTTAGTAACACC	0.333000													13	30					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918418	28918418	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28918418G>A	ENST00000257192.4	+	10	1617		c.e10+1			NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1						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)			TCTATAGATGGTAAGAAATTA	0.308000													8	50					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685682	100685682	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100685682C>T	ENST00000306151.4	+	3	11049	c.10985C>T	c.(10984-10986)aCc>aTc	p.T3662I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3662	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACACCAGCACACCT	0.502000													34	224					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45436415	45436415	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:45436415C>T	ENST00000321429.4	+	18	2525	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	DUOX1_ENST00000389037.3_Silent_p.I706I|DUOX1_ENST00000561166.1_Silent_p.I352I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	706					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCAAGATCCCCAAGGAGT	0.622000													11	73					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655067	19655067	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:19655067C>T	ENST00000586018.1	+	8	1833	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	CILP2_ENST00000291495.4_Silent_p.P571P			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	571						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACACGATCCCCCTGGGCGAGC	0.632000													23	155					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104877954	104877954	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:104877954C>T	ENST00000393141.2	-	3	359	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CASP5_ENST00000444749.2_Missense_Mutation_p.E39K|CASP5_ENST00000393139.2_Missense_Mutation_p.E64K|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.E97K|CASP5_ENST00000526056.1_Missense_Mutation_p.E110K|CASP5_ENST00000531367.1_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	97	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTCCTCTTCCTTCAATGTC	0.358000													15	36					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169252	32169252	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32169252C>T	ENST00000375023.3	-	22	3919	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1261					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						TGGAAGTGATCATGGCAGTAC	0.557000													14	97					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316606	40316606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40316606G>A	ENST00000593685.1	-	11	2107	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	DYRK1B_ENST00000323039.5_Nonsense_Mutation_p.R547*|DYRK1B_ENST00000348817.3_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000430012.2_Nonsense_Mutation_p.R507*|DYRK1B_ENST00000597639.1_Nonsense_Mutation_p.R519*			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	547					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCAAGGTATCGGGGCTGGGGG	0.687000													23	85					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927694	38927694	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38927694C>T	ENST00000302328.3	-	16	3069	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000444237.2_Silent_p.T957T|SCN11A_ENST00000450244.1_Silent_p.T957T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	957					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)	CTCTCTGGCTCGTGGGCTTCT	0.443000													9	50					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115335570	115335570	+	Missense_Mutation	SNP	G	G	A	rs140991083		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:115335570G>A	ENST00000357872.4	+	7	1610	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	AQPEP_ENST00000395528.2_Missense_Mutation_p.E13K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		496					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.E496K(1)									TGAAATACAGGAACTCTTTGA	0.358000													13	46					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919729	142919729	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142919729C>T	ENST00000408947.3	+	1	600	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	186					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAAGTACTTCTCTGAGACCA	0.468000													20	98					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492984	24492984	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:24492984C>T	ENST00000264463.4	-	10	2073	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	522	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAAAAATTTCTGTCCACCTA	0.323000										HNSCC(23;0.051)			34	164					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886639	123886639	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:123886639G>A	ENST00000320891.4	+	1	358	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATGTCCTATGATCGCTACTT	0.567000													8	160					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727979	20727979	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:20727979C>T	ENST00000427401.4	-	4	1124	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	344					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCACATTCTTCACATTTGTAG	0.403000													10	38					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192534	66192534	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66192534G>A	ENST00000311034.2	+	7	2349	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	725					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCCAGTGAGGAATGGGGCTC	0.602000													10	86					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74884003	74884003	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:74884003G>A	ENST00000357321.4	+	5	508	c.390G>A	c.(388-390)gaG>gaA	p.E130E	NUDT13_ENST00000537969.1_Intron|NUDT13_ENST00000544879.1_Silent_p.E4E|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Silent_p.E130E|NUDT13_ENST00000349051.5_Silent_p.E130E	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	130							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGGAGACAGAGCTCAAGGGGT	0.423000													7	58					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58016682	58016682	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58016682C>T	ENST00000599847.1	+	3	318	c.176C>T	c.(175-177)tCc>tTc	p.S59F	AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.S58F|ZNF773_ENST00000282292.4_Missense_Mutation_p.S59F|ZNF773_ENST00000593916.1_Missense_Mutation_p.S58F			Q6PK81	ZN773_HUMAN	zinc finger protein 773	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CTTGCATCTTCCAAGACCCAT	0.483000													8	54					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71200859	71200859	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71200859C>T	ENST00000273936.4	+	1	162	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	35						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAATGCTATTCCCAAATCAGA	0.388000													10	49					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414945	21414945	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:21414945C>T	ENST00000534331.1	-	2	325	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.R82Q	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	92										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GCTGACTCTCCGCAGCCACCT	0.617000													18	69					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93557990	93557990	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:93557990C>T	ENST00000394196.4	+	37	5825	c.4757C>T	c.(4756-4758)tCc>tTc	p.S1586F	CHD2_ENST00000557381.1_Missense_Mutation_p.S1586F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1586					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCCTCAGGCTCCAGCCGGGAC	0.512000													25	113					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36759834	36759834	+	Silent	SNP	G	G	A	rs139245762	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36759834G>A	ENST00000244751.2	-	8	1128	c.504C>T	c.(502-504)tcC>tcT	p.S168S		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	168	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCCTCAGCGGACAGGATGA	0.567000													25	98					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137761356	137761356	+	Splice_Site	SNP	C	C	T	rs148732404		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:137761356C>T	ENST00000242375.3	+	1	134	c.93_splice	c.e1+1	p.S31_splice	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Splice_Site_p.S31_splice|AKR1D1_ENST00000432161.1_Splice_Site_p.S31_splice	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	31					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.S31L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAACCTAAATCGGTAAGCTTA	0.383000													3	44					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089286	10089286	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:10089286C>T	ENST00000264828.3	-	41	3067	c.2982G>A	c.(2980-2982)aaG>aaA	p.K994K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	994	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTATCACCCTTTAAGCCAG	0.577000													4	45					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329112	3329112	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3329112C>T	ENST00000378398.3	+	10	2436	c.2354C>T	c.(2353-2355)cCc>cTc	p.P785L	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.P784L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P784L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P784L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P785L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P785L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P784L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	784	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGTGAAGCCCATCCTGCCC	0.697000			T	EVI1	"""MDS, AML"""								6	52					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:164783091C>T	ENST00000264382.3	-	7	827	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	255	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)			17	48					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790821	4790821	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4790821G>A	ENST00000380383.1	-	1	347	c.348C>T	c.(346-348)ttC>ttT	p.F116F	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.F109F|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	109						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATAAAAGTGAATCCATGAA	0.428000													7	36					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:20232362C>T	ENST00000245957.5	+	20	2359	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	C20orf26_ENST00000377293.1_Silent_p.I117I|C20orf26_ENST00000389656.3_Silent_p.I117I|C20orf26_ENST00000377309.2_Silent_p.I117I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	761										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000													25	104					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29649925	29649925	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:29649925G>A	ENST00000373779.3	+	27	4000	c.3871G>A	c.(3871-3873)Ggc>Agc	p.G1291S	PTPRU_ENST00000428026.2_Missense_Mutation_p.G1288S|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1297S|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1301S|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1297S|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1297S	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1301	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCAGCAATATGGCCTCATGGA	0.612000													4	16					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171008297	171008297	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:171008297G>A	ENST00000337664.4	-	3	615	c.339C>T	c.(337-339)gtC>gtT	p.V113V	AADAT_ENST00000509167.1_Silent_p.V117V|AADAT_ENST00000515480.1_Silent_p.V113V|AADAT_ENST00000353187.2_Silent_p.V113V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	113					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCCAGATGTGACACATAGAT	0.408000													5	131					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21643307	21643307	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:21643307G>A	ENST00000444129.2	-	4	688	c.220C>T	c.(220-222)Cca>Tca	p.P74S	RECQL_ENST00000421138.2_Missense_Mutation_p.P74S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	74					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CCAGACCATGGAAAATCTAGG	0.303000								Other identified genes with known or suspected DNA repair function					4	21					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:11111118G>A	ENST00000304623.8	-	14	2504	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.S339L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S681L|CTNND2_ENST00000503622.1_Missense_Mutation_p.S435L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S772L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	772					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCCGGTACGAGAGGTTCCT	0.537000													15	92					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351631	79351631	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:79351631G>A	ENST00000350881.2	+	3	506	c.316G>A	c.(316-318)Gat>Aat	p.D106N	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D15N	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	106	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCTGAAGAACGATGGGAAGGT	0.552000													54	310					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692581	117692581	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:117692581C>T	ENST00000223795.2	-	1	116	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	1					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCCTGGGTCCATTCTTTATA	0.562000													16	66					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31564236	31564236	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:31564236C>T	ENST00000379416.3	-	33	3592	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1182					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)	GAGCCAACATCCATGACAATA	0.483000													7	5					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120283	142120283	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142120283G>A	ENST00000390377.1	-	0	38																											CTGTCCCTAGGAAACCCAGGA	0.498000													21	174					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158287454	158287454	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:158287454C>T	ENST00000264192.3	-	4	421	c.300G>A	c.(298-300)caG>caA	p.Q100Q	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	100	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGCAGGCATTCTGATTCTGGG	0.373000													16	24					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	C	T	rs143331676	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000438100.2_Silent_p.P330P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000432797.2_Silent_p.P199P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592000													16	70					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012039	151012039	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:151012039C>T	ENST00000260843.4	-	3	1459	c.995G>A	c.(994-996)aGa>aAa	p.R332K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	332						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCCTGGTTCTGATATTTGA	0.363000													40	139					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23531415	23531415	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:23531415G>A	ENST00000262710.1	-	16	3562	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	ACIN1_ENST00000605057.1_Missense_Mutation_p.P1021S|ACIN1_ENST00000338631.6_Missense_Mutation_p.P352S|ACIN1_ENST00000555053.1_Missense_Mutation_p.P1066S|ACIN1_ENST00000457657.1_Missense_Mutation_p.P1039S|ACIN1_ENST00000397341.3_Missense_Mutation_p.P321S|ACIN1_ENST00000357481.2_Missense_Mutation_p.P321S|ACIN1_ENST00000557515.1_Missense_Mutation_p.P320S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1079					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGAATTTGGGATTGGACTGG	0.532000													35	163					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236523	140236523	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140236523G>A	ENST00000307360.5	+	1	890	c.890G>A	c.(889-891)aGg>aAg	p.R297K	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R297K|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAACGAAAGGACGGGAGAA	0.368000													11	46					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170060	32170060	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32170060C>T	ENST00000375023.3	-	21	3686	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1183					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						GGCCCCATCTCCACTTCTGCC	0.677000													6	34					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319882	8319882	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8319882G>A	ENST00000381196.4	-	42	6162	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	PTPRD_ENST00000397611.3_Silent_p.F1463F|PTPRD_ENST00000540109.1_Silent_p.F1873F|PTPRD_ENST00000358503.5_Silent_p.F1851F|PTPRD_ENST00000537002.1_Silent_p.F1463F|PTPRD_ENST00000397606.3_Silent_p.F1466F|PTPRD_ENST00000356435.5_Silent_p.F1873F|PTPRD_ENST00000355233.5_Silent_p.F1467F|PTPRD_ENST00000486161.1_Silent_p.F1466F|PTPRD_ENST00000397617.3_Silent_p.F1466F|PTPRD_ENST00000360074.4_Silent_p.F1860F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1873	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACAGTCTGGAAGATATCTA	0.418000										TSP Lung(15;0.13)			6	47					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33747315	33747315	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:33747315T>C	ENST00000394562.1	-	5	1648	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Silent_p.Q375Q|SLFN12_ENST00000304905.5_Silent_p.Q375Q			Q8IYM2	SLN12_HUMAN	schlafen family member 12	375							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTGCCGTTGCCATTCCA	0.403000													12	53					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815404	158815404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158815404G>A	ENST00000368141.4	+	5	859	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	200	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCAACGGCAGGTGGATGCAAG	0.507000													6	45					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088433	86088433	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:86088433T>A	ENST00000330753.4	+	2	1342	c.575T>A	c.(574-576)aTt>aAt	p.I192N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I192N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	192					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)		GAAAATCGAATTGCTGTCATA	0.498000													27	68					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184141	6184141	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:6184141C>T	ENST00000262450.3	-	31	4665	c.4566G>A	c.(4564-4566)ggG>ggA	p.G1522G	CHD5_ENST00000378021.1_Silent_p.G379G	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1522					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGTACTTCCCGTTGACAT	0.632000													6	29					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524480	55524480	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:55524480C>T	ENST00000305377.5	+	1	1016	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CATGTTGAATCCTTTGATTTA	0.358000													23	66					0	0	1	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573536	106573536	+	RNA	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106573536A>C	ENST00000390601.2	-	0	167																											GACACTGGACACCTGCAAACA	0.517000													34	156					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024188	161024188	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:161024188G>A	ENST00000368013.3	-	5	824	c.504C>T	c.(502-504)aaC>aaT	p.N168N	ARHGAP30_ENST00000368016.3_Silent_p.N168N|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	168	Rho-GAP.				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)			CGATGGCCAGGTTGCGAGCAT	0.597000													5	29					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48219361	48219361	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:48219361C>T	ENST00000302506.3	-	7	1075	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CDC25A_ENST00000351231.3_Missense_Mutation_p.D183N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	223					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTCTCTCCATCGAGAAGGTCC	0.443000													41	209					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602351	48602351	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48602351C>T	ENST00000323776.5	+	13	2040	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	MYCBPAP_ENST00000436259.2_Silent_p.T589T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	589					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTATCTCACCGAGGAAGACT	0.647000													19	145					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43864489	43864489	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43864489C>T	ENST00000378009.4	+	0	853				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACTGATTGGACCACATCGAAT	0.542000													8	13					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12860056	12860056	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:12860056C>T	ENST00000379672.5	+	15	1635	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ARHGAP44_ENST00000340825.3_Silent_p.F445F|ARHGAP44_ENST00000262444.9_Silent_p.F445F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	445	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTGGTTCTTCCCTGGGGGTA	0.522000													7	51					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44521930	44521930	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:44521930C>T	ENST00000372484.3	+	7	1008	c.726C>T	c.(724-726)taC>taT	p.Y242Y	CTSA_ENST00000372459.2_Silent_p.Y224Y|CTSA_ENST00000191018.5_Silent_p.Y224Y|CTSA_ENST00000354880.5_Silent_p.Y225Y|RP3-337O18.9_ENST00000607703.1_RNA	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	224					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTGCCTACTACCATGGCCTTC	0.547000													11	98					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906109	42906109	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:42906109G>A	ENST00000422265.1	+	3	290	c.115G>A	c.(115-117)Gat>Aat	p.D39N	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.D39N|ACKR2_ENST00000442925.1_Missense_Mutation_p.D39N	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		CTGCAGGAAGGATGCAGTGGT	0.512000													23	111					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417074	130417074	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:130417074C>T	ENST00000370904.1	-	12	1715	c.805G>A	c.(805-807)Gag>Aag	p.E269K	IGSF1_ENST00000361420.3_Missense_Mutation_p.E278K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E278K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E269K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	278	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAATTTGCCTCATTTTTTATT	0.398000													21	21					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117680496	117680496	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117680496G>A	ENST00000317775.6	-	20	3662	c.2977C>T	c.(2977-2979)Cac>Tac	p.H993Y	NOS1_ENST00000338101.4_Missense_Mutation_p.H1027Y|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	993					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)	CGCTTTTTGTGGACATTGGAT	0.517000													9	67					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004584	75004584	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:75004584C>T	ENST00000373359.2	-	1	495	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	101	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTGGCTTTTCATTCTCATGA	0.537000													8	14					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188442	152188442	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152188442C>T	ENST00000368801.2	-	3	5738	c.5663G>A	c.(5662-5664)gGa>gAa	p.G1888E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1888					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGATCCATGCTGAGT	0.537000													61	1462					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:54307284C>T	ENST00000324134.6	-	6	2675	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	836					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)		CAGTGCATTTCCTGTCAGGTC	0.562000													6	62					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133355802	133355802	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:133355802C>T	ENST00000372394.1	+	12	1285	c.804C>T	c.(802-804)atC>atT	p.I268I	ASS1_ENST00000352480.5_Silent_p.I268I|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.I268I			P00966	ASSY_HUMAN	argininosuccinate synthase 1	268					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTATTGACATCGTGGAGAACC	0.612000													10	52					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187827	100187827	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100187827A>G	ENST00000241071.6	+	3	491	c.169A>G	c.(169-171)Aga>Gga	p.R57G	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R95G|FBXO24_ENST00000360609.2_Missense_Mutation_p.R57G|FBXO24_ENST00000468962.1_Missense_Mutation_p.R45G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R57G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	57	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTCCCAGTCAGAGACCTTGT	0.602000													5	64					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101703550	101703550	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101703550C>T	ENST00000261637.4	+	19	2338	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGCCGCTTCGTTATTTGTT	0.358000													19	110					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908156	29908156	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:29908156C>T	ENST00000308713.5	-	3	1025	c.498G>A	c.(496-498)acG>acA	p.T166T	SEZ6L2_ENST00000537485.1_Silent_p.T122T|SEZ6L2_ENST00000346932.5_Silent_p.T166T|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Silent_p.T96T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	166	Thr-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTGGTCACCGTAGTGGTAA	0.657000													38	127					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114437951	114437951	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:114437951G>A	ENST00000369569.1	-	10	2236	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	AP4B1_ENST00000256658.4_Silent_p.F652F|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Silent_p.F484F|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	652					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCAGGATGGAATTCTCCCC	0.502000													10	84					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989524	73989524	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:73989524G>A	ENST00000553558.1	-	3	654	c.333C>T	c.(331-333)gcC>gcT	p.A111A	HEATR4_ENST00000334988.2_Silent_p.A111A|HEATR4_ENST00000560393.1_Silent_p.A64A	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTGAGGCCGGGCCTTCCTGA	0.532000													13	55					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839976	25839976	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:25839976T>C	ENST00000376351.3	+	6	1835	c.1476T>C	c.(1474-1476)ttT>ttC	p.F492F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	492						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCTCGGTTTTGCTACTGTTT	0.398000													23	93					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883292	28883292	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:28883292G>A	ENST00000337120.5	+	5	4792	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.E191K|SH2B1_ENST00000538342.1_Missense_Mutation_p.E165K|SH2B1_ENST00000359285.5_Missense_Mutation_p.E501K|SH2B1_ENST00000395532.4_Missense_Mutation_p.E501K|SH2B1_ENST00000322610.8_Missense_Mutation_p.E501K	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	501	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGACACTCCGGAAACAGCCAC	0.642000													23	70					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599467	136599467	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136599467C>T	ENST00000531224.1	-	4	804	c.552G>A	c.(550-552)caG>caA	p.Q184Q	BCLAF1_ENST00000527536.1_Silent_p.Q184Q|BCLAF1_ENST00000527759.1_Silent_p.Q182Q|BCLAF1_ENST00000392348.2_Silent_p.Q182Q|BCLAF1_ENST00000353331.4_Silent_p.Q182Q|BCLAF1_ENST00000530767.1_Silent_p.Q184Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	184					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCGGTTCCTCCTGTGATTTAC	0.428000													5	129					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318825	21318825	+	Silent	SNP	C	C	T	rs148773260		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:21318825C>T	ENST00000583088.1	+	3	1066	c.171C>T	c.(169-171)ttC>ttT	p.F57F	KCNJ12_ENST00000331718.5_Silent_p.F57F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACATTGAGTTCGCCAACATGG	0.602000										Prostate(3;0.18)			6	86					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222919	140222919	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140222919G>A	ENST00000531613.1	+	1	2013	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.E671E	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGAGAGCGGCCAGG	0.632000													22	99					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483196	20483196	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20483196G>A	ENST00000305045.2	-	1	156	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCAGGCAGGGATCAGAAATT	0.448000													4	18					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135827495	135827495	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:135827495C>T	ENST00000250617.6	-	4	1551	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	116					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CATGGTCTTTCTGATAGCTGA	0.428000													28	67					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138472	16138472	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:16138472C>T	ENST00000399408.2	+	8	1150	c.975C>T	c.(973-975)ttC>ttT	p.F325F	ABCC1_ENST00000351154.5_Silent_p.F325F|ABCC1_ENST00000346370.5_Silent_p.F325F|ABCC1_ENST00000345148.5_Silent_p.F325F|ABCC1_ENST00000399410.3_Silent_p.F325F|ABCC1_ENST00000349029.5_Silent_p.F325F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	325	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCCCTACTTCCTCATGAGCT	0.512000													13	80					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129127593	129127593	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:129127593C>T	ENST00000505956.1	-	6	1306	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E382K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TCAATGAGCTCCCTCATATCC	0.577000													3	16					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82580167C>T	ENST00000423517.2	-	6	10074	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R3246Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(2)|p.R3177L(1)		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						TTCTTGTTCTCGGAACCTTTG	0.473000													6	80					0	0	1	0	0
LSM3	27258	broad.mit.edu	37	3	14223144	14223144	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:14223144G>A	ENST00000306024.3	+	2	609	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	36					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						AATGAGAAATGACCGAGAGCT	0.413000													28	107					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967999	5967999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:5967999G>A	ENST00000405415.1	-	19	2646	c.2260C>T	c.(2260-2262)Cga>Tga	p.R754*	RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000441023.2_Nonsense_Mutation_p.R754*|RSPH10B_ENST00000404406.1_Nonsense_Mutation_p.R754*|RSPH10B_ENST00000337579.3_Nonsense_Mutation_p.R754*			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	754								p.R754R(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCTTCCTCTCGATCATCCTTG	0.418000													19	221					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980007	76980007	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:76980007G>A	ENST00000315938.4	-	8	836	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GDPD4_ENST00000376217.2_Missense_Mutation_p.P196S	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	196					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.P196T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GTTGGCTTGGGCCCCAAATTC	0.458000													18	92					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76889522	76889522	+	Silent	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:76889522A>C	ENST00000285871.4	+	8	1082	c.955A>C	c.(955-957)Aga>Cga	p.R319R	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.R65R	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	319										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAATTAGCCAGAGAGAATGA	0.308000													10	65					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072975	34072975	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:34072975G>T	ENST00000254466.6	-	6	1568	c.1541C>A	c.(1540-1542)aCa>aAa	p.T514K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T498K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	514					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTCCTGGTGTTGGGGGGCG	0.612000													13	63					1.49906e-05	1.50873e-05	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39228702	39228702	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:39228702G>A	ENST00000340369.3	-	2	2463	c.2235C>T	c.(2233-2235)atC>atT	p.I745I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I745I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	745							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCCCCCTTGGATGCTCTCAG	0.612000													17	36					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014453	21014453	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21014453C>T	ENST00000261383.3	-	42	6098	c.6099G>A	c.(6097-6099)gaG>gaA	p.E2033E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2033					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTTTTCCTCCTCTTTGGTGA	0.388000													18	90					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966312	111966312	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:111966312G>A	ENST00000369732.3	-	5	391	c.336C>T	c.(334-336)tcC>tcT	p.S112S	OVGP1_ENST00000540696.1_Silent_p.S52S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	112					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGCAAATGTGGACAACATAG	0.443000													12	84					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565796	142565796	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142565796G>A	ENST00000392957.2	+	13	2694	c.1907G>A	c.(1906-1908)aGc>aAc	p.S636N	EPHB6_ENST00000442129.1_Missense_Mutation_p.S636N|EPHB6_ENST00000411471.2_Missense_Mutation_p.S359N	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	636						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCAATACAGCAGCCCAGGT	0.627000													4	21					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692342	20692342	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20692342C>T	ENST00000315519.2	+	1	552	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGGAAGTTCTGTATAATTC	0.463000													10	63					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7534917	7534917	+	Splice_Site	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7534917T>C	ENST00000359920.6	+	18	3602		c.e18+2		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCACCAGGTGAGCCCCCAC	0.662000													30	99					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719929	40719929	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40719929C>T	ENST00000253055.3	+	9	2631	c.2343C>T	c.(2341-2343)ccC>ccT	p.P781P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	781					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						cctccccgcccgcgcccacac	0.716000													3	10					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720199	28720199	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28720199G>A	ENST00000257197.3	-	10	1587	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	DSC1_ENST00000257198.5_Silent_p.F442F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	442	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTGCTTTAGAGAATTGTGCCT	0.398000													17	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587872	179587872	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179587872C>T	ENST00000589042.1	-	75	22086	c.21862G>A	c.(21862-21864)Gaa>Aaa	p.E7288K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6044K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E6971K|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6971							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)			TTCAGAATTTCCAGGATACAA	0.393000													7	18					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810433	31810433	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:31810433G>A	ENST00000446923.2	+	7	2513	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	ZEB1_ENST00000560721.2_Missense_Mutation_p.E704K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E725K|ZEB1_ENST00000320985.10_Missense_Mutation_p.E724K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E657K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	724					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTACACAGCTGAGGGTGCACA	0.438000													5	58					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94035563	94035563	+	Splice_Site	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:94035563G>A	ENST00000297268.6	+	12	1013	c.540_splice	c.e12-1	p.G181_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	181			Missing (in OI4).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTTTCAGGGACACAATGGT	0.368000										HNSCC(75;0.22)			8	72					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389850	136389850	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:136389850G>A	ENST00000339996.3	-	1	218	c.117C>T	c.(115-117)ttC>ttT	p.F39F	TMEM8C_ENST00000413714.1_Intron	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	39						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AGAACAGGGTGAAGAGGTAGA	0.632000													18	69					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407293	185407293	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:185407293G>A	ENST00000382199.2	-	6	622	c.527C>T	c.(526-528)tCc>tTc	p.S176F	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.S182F|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.S119F|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.S176F	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	176					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTCCCGGGAAGAGTGGTC	0.597000													20	133					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915316	48915316	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:48915316G>A	ENST00000294954.7	-	11	1641	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	LHCGR_ENST00000344775.3_Silent_p.F478F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.F513F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	540				F -> L (in Ref. 3; AAA70231).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAAATTATGAAGAAGGCCA	0.363000													32	87					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329203	80329203	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:80329203C>T	ENST00000358842.3	-	1	169	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	51					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTCCACCCATCCTTCTTTTGG	0.413000													12	111					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269969	28269969	+	Missense_Mutation	SNP	G	G	A	rs139051198		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:28269969G>A	ENST00000405948.2	+	7	2758	c.2338G>A	c.(2338-2340)Gcc>Acc	p.A780T	PGBD1_ENST00000259883.3_Missense_Mutation_p.A780T	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	780					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTACACAGAGCCTGTAACCC	0.423000													8	37					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65479844	65479844	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:65479844C>T	ENST00000341318.4	+	1	340	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	KAT5_ENST00000530446.1_Missense_Mutation_p.P36S|KAT5_ENST00000352980.4_Intron|KAT5_ENST00000377046.3_Intron	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	0					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CGCGCTGTCTCCCCAGGGGGA	0.706000													7	15					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680323	87680323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:87680323C>T	ENST00000320005.5	-	5	614	c.567G>A	c.(565-567)tgG>tgA	p.W189*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	189					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGACTTTGAACCACAACAGCC	0.368000													23	91					0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54912521	54912521	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:54912521G>A	ENST00000521604.2	-	3	619	c.216C>T	c.(214-216)tcC>tcT	p.S72S	TCEA1_ENST00000520534.1_Silent_p.S72S|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000518784.1_Silent_p.S72S|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Silent_p.S51S	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	72	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTTTTCCAGGATTTGATGA	0.333000			T	PLAG1	salivary adenoma								3	6					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9002816	9002816	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:9002816G>A	ENST00000305997.3	-	11	1287	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	363					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAACGTCTGGATAGTTGGAC	0.453000													6	55					0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22930724	22930724	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrY:22930724G>A	ENST00000288666.5	+	5	394	c.394G>A	c.(394-396)Ggg>Agg	p.G132R		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	132					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GATTACTGTGGGGACAAAGGG	0.443000													21	34					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299045	58299045	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:58299045C>T	ENST00000377918.3	+	4	3123	c.3097C>T	c.(3097-3099)Ccc>Tcc	p.P1033S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1033					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAAGAGGTCCCCTCAGCATC	0.517000													9	68					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413467	124413467	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124413467G>A	ENST00000306842.2	-	1	108	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCAGAAACAGGAAGAAGAGGG	0.532000													9	76					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:48347056C>T	ENST00000319856.4	+	1	585	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517000													17	72					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237843765	237843765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:237843765C>T	ENST00000366574.2	+	62	9222	c.8905C>T	c.(8905-8907)Cct>Tct	p.P2969S	RYR2_ENST00000542537.1_Missense_Mutation_p.P2953S|RYR2_ENST00000360064.6_Missense_Mutation_p.P2967S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2969	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCGTTCTTCCTTTAATTGA	0.423000													3	13					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100213	69100213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69100213C>T	ENST00000332644.5	-	5	598	c.437G>A	c.(436-438)tGg>tAg	p.W146*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	146	SEA.				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						AACTGCATTCCAGGATGCCAT	0.333000													9	57					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799107	90799107	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:90799107C>T	ENST00000438251.1	+	5	828	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.L180F			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	180	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CACCTGGTGCCTCCCCGCAGA	0.552000													78	449					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156738751	156738751	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:156738751C>T	ENST00000347377.6	+	11	1503	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	CYFIP2_ENST00000521420.1_Missense_Mutation_p.R332C|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R162C|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R358C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R32C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R283C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R358C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	358					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACCACATCCGCTTCATCTC	0.597000													3	15					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6437012	6437012	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:6437012G>A	ENST00000449001.2	+	14	2661	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E755K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E755K|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.E285K	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	755					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGAGGGGGCCGAGGAGCCCCG	0.657000													4	21					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895182	77895182	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:77895182G>A	ENST00000262198.4	+	4	2341	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	629					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTTCCCCCTGGAGGCCTTGCG	0.622000													24	89					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750118	142750118	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142750118C>T	ENST00000418316.1	+	1	702	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGCGGATCCCCTCTGCCAGCA	0.537000													35	224					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997949	115997949	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115997949G>A	ENST00000264363.2	-	2	922	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	82	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCACGAAGAGAAGGACAGTA	0.438000													6	68					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004611	52004611	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52004611C>T	ENST00000291707.3	-	1	432	c.377G>A	c.(376-378)gGa>gAa	p.G126E		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	126	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCATATTTCCTCTCTCTAC	0.473000													13	96					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216138719	216138719	+	Missense_Mutation	SNP	G	G	A	rs111033508	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:216138719G>A	ENST00000366943.2	-	37	7446	c.7060C>T	c.(7060-7062)Cgc>Tgc	p.R2354C	USH2A_ENST00000307340.3_Missense_Mutation_p.R2354C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATTAGGGCGAAAAGGTGCT	0.408000										HNSCC(13;0.011)			12	92					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106543594	106543594	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:106543594G>A	ENST00000369096.4	+	3	630	c.396G>A	c.(394-396)agG>agA	p.R132R	PRDM1_ENST00000369091.2_Silent_p.R96R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	132	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACGCCAACAGGAAATATTTTT	0.408000			"""D, N, Mis, F, S"""		DLBCL								17	25					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55088501	55088501	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:55088501G>A	ENST00000505374.1	+	17	1427	c.1335G>A	c.(1333-1335)ttG>ttA	p.L445L	DDX4_ENST00000511853.1_Silent_p.L296L|DDX4_ENST00000353507.5_Silent_p.L411L|DDX4_ENST00000354991.5_Silent_p.L411L|DDX4_ENST00000514278.2_Silent_p.L425L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	445	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTAGTTTTGGATGAAGCTG	0.343000													8	57					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650088	23650088	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:23650088G>A	ENST00000478691.1	-	5	604	c.333C>T	c.(331-333)acC>acT	p.T111T	HNRNPR_ENST00000427764.2_Silent_p.T174T|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Silent_p.T73T|HNRNPR_ENST00000374612.1_Silent_p.T212T|HNRNPR_ENST00000374616.3_Silent_p.T212T|HNRNPR_ENST00000302271.6_Silent_p.T212T	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	212	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCACAGAAGGTGATAAATG	0.433000													22	112					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366594	21366594	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:21366594C>T	ENST00000311048.7	+	5	1632	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCGATCCTCAAATCTTA	0.353000													11	49					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080856	23080856	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:23080856G>A	ENST00000219689.7	-	16	2569	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V	USP31_ENST00000567975.1_Missense_Mutation_p.A150V	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	857	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCATTGACGGCCAAGGGGCT	0.488000													10	30					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272852	8272852	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8272852G>A	ENST00000396267.1	-	2	1664	c.833C>T	c.(832-834)tCc>tTc	p.S278F	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.S360F|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	360	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCCTTCCAGGGAGCCCTGGCT	0.502000													19	85					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244354	168244354	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:168244354C>T	ENST00000519560.1	-	8	1163	c.744G>A	c.(742-744)ttG>ttA	p.L248L	SLIT3_ENST00000404867.3_Silent_p.L248L|SLIT3_ENST00000332966.8_Silent_p.L248L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	248	LRRCT 1.				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)			TGAAGCCCCTCAAATGCACAG	0.597000													24	78					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261718	1261718	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:1261718C>T	ENST00000348261.5	+	24	4727	c.4479C>T	c.(4477-4479)gcC>gcT	p.A1493A	CACNA1H_ENST00000565831.1_Silent_p.A1493A|CACNA1H_ENST00000358590.4_Silent_p.A1493A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1493					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCTCAGGCCCTGATGTCGC	0.672000													9	74					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48169925C>T	ENST00000381501.3	-	7	698	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	181	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383000													9	46					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41202524	41202524	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:41202524A>C	ENST00000399959.2	+	7	1454	c.599A>C	c.(598-600)tAt>tCt	p.Y200S	DDX3X_ENST00000542215.1_Missense_Mutation_p.Y244S|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.Y184S|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	200					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTACTCGTTATACTCGCCCA	0.398000										HNSCC(61;0.18)			24	26					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085406	143085406	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143085406C>T	ENST00000322764.5	+	6	1463	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	ZYX_ENST00000392910.2_Missense_Mutation_p.P216L|ZYX_ENST00000449423.2_Missense_Mutation_p.P286L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	373					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					ATGGAGCATCCTCAGAGGCAG	0.672000													14	58					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593980	123593980	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123593980C>T	ENST00000340011.5	+	3	713	c.356C>T	c.(355-357)tCc>tTc	p.S119F	SPAM1_ENST00000460182.1_Missense_Mutation_p.S119F|SPAM1_ENST00000439500.1_Missense_Mutation_p.S119F|SPAM1_ENST00000402183.2_Missense_Mutation_p.S119F|SPAM1_ENST00000223028.7_Missense_Mutation_p.S119F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	119					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)	CAGAAGATTTCCTTACAAGAC	0.388000													14	84					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140157635	140157635	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140157635G>A	ENST00000343053.4	+	5	1081	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGCACGACCTGGACGTGGGTG	0.632000													17	115					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807206	143807206	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143807206C>T	ENST00000408979.2	+	1	600	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACCACCTCTTCTGTGAAATTC	0.512000													23	116					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108031659	108031659	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108031659G>A	ENST00000278612.8	-	17	4259	c.4154C>T	c.(4153-4155)tCt>tTt	p.S1385F		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1385					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTTTTACTAGAAGGACGAGA	0.338000													3	24					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089677	10089677	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:10089677C>T	ENST00000287647.3	+	16	1448	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	FANCD2_ENST00000383806.1_Missense_Mutation_p.S452L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S452L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S452L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	452					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTATAATTTCATTTGGCAGT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	161					0	0	1	0	0
MEAF6	64769	broad.mit.edu	37	1	37980288	37980288	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:37980288C>T	ENST00000373075.2	-	1	76	c.60G>A	c.(58-60)gcG>gcA	p.A20A	MEAF6_ENST00000296214.5_Silent_p.A20A|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000448519.2_Silent_p.A20A|MEAF6_ENST00000373073.4_Silent_p.A20A	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	20					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TCACGAGCTCCGCCAGCTCCC	0.756000													3	19					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584939	72584939	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72584939C>T	ENST00000375352.1	-	2	170	c.90G>A	c.(88-90)tcG>tcA	p.S30S	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	30	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						AGCCCTGCTCCGAGCCATTCA	0.527000													18	113					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8667946	8667946	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:8667946G>A	ENST00000317371.4	-	16	1895	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SSUH2_ENST00000544814.1_Silent_p.L246L|SSUH2_ENST00000415132.1_Silent_p.L224L|SSUH2_ENST00000341795.3_Silent_p.L224L					ssu-2 homolog (C. elegans)																		AAGTGCAACAGCTTCTTCTCC	0.567000													101	235					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													5	87					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108642	8108642	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8108642A>C	ENST00000316199.6	-	8	833	c.756T>G	c.(754-756)aaT>aaG	p.N252K	AURKB_ENST00000585124.1_Missense_Mutation_p.N251K|AURKB_ENST00000578549.1_Missense_Mutation_p.N219K|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.N210K			Q96GD4	AURKB_HUMAN	aurora kinase B	251	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CCACCTTCTCATTGTGCATGC	0.577000													26	114					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076902	41076902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41076902C>T	ENST00000373198.3	-	9	1753	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W506*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	506	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGAGGTTTCCACTGGATGT	0.483000													34	130					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33681071	33681071	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:33681071C>T	ENST00000336934.5	-	13	3164	c.3047_splice	c.e13-1	p.R1016_splice	STARD13_ENST00000255486.4_Splice_Site_p.R1008_splice|STARD13_ENST00000399365.3_Splice_Site_p.R898_splice	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1016	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTTCCAGGTCCTGTAGCAAA	0.507000													12	74					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924332	70924332	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70924332C>T	ENST00000603540.1	+	2	374	c.116C>T	c.(115-117)tCc>tTc	p.S39F	ADAM21_ENST00000267499.3_Missense_Mutation_p.S39F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	39					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATTTCACTTCCCCGGAAGTG	0.552000													21	109					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621175	171621175	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:171621175G>A	ENST00000037502.5	-	1	636	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	193					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCACAGCCCGAGCAGTGTCT	0.582000													48	261					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694565	42694565	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:42694565C>T	ENST00000358131.5	+	6	1328	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	TOX2_ENST00000341197.3_Missense_Mutation_p.P392S|TOX2_ENST00000423191.1_Missense_Mutation_p.P350S|TOX2_ENST00000372999.1_Missense_Mutation_p.P350S|TOX2_ENST00000435864.2_Missense_Mutation_p.P270S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	374	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCGCCGCCGCCACCCTC	0.716000													12	56					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75608843	75608843	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:75608843C>T	ENST00000294638.5	+	6	1094	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	LHX8_ENST00000356261.3_Missense_Mutation_p.H134Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	144	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GAGACACATCCATTCTACTGA	0.458000													19	97					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101777418	101777418	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101777418G>A	ENST00000261637.4	+	60	8201	c.8027G>A	c.(8026-8028)cGg>cAg	p.R2676Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2676					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTTTGTTTCGGGAACTCAAC	0.468000													23	124					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030780	10030780	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:10030780G>A	ENST00000378380.3	+	6	1892	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	ANKEF1_ENST00000378392.1_Silent_p.K521K|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TGGATATGAAGGATAATTATT	0.413000													8	32					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828181	31828181	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:31828181C>T	ENST00000354297.4	+	5	642	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	BPIFA1_ENST00000375422.2_Silent_p.L191L|BPIFA1_ENST00000375413.4_Silent_p.L191L	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	191					innate immune response	extracellular region	lipid binding	p.L191M(1)									GCAAATTTCTCTGCTTGATGG	0.517000													39	183					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129756	204129756	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:204129756C>T	ENST00000367195.2	-	4	467	c.424G>A	c.(424-426)Gga>Aga	p.G142R	REN_ENST00000272190.8_Missense_Mutation_p.G142R			P00797	RENI_HUMAN	renin	142					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTTCTGTTCCATTGTGCTTG	0.562000													14	102					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000													13	57					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60635114	60635114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:60635114G>A	ENST00000278853.5	+	1	80	c.80G>A	c.(79-81)tGg>tAg	p.W27*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	27					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGGGTAGGTGGCTCCAGCCC	0.667000													7	41					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080965	148080965	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148080965G>A	ENST00000361727.3	+	22	4216	c.3700G>A	c.(3700-3702)Gat>Aat	p.D1234N	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D293N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1234					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)			CTGGCACCTGGATCACCTGGA	0.562000										HNSCC(39;0.1)			9	23					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990614	33990614	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:33990614G>A	ENST00000373381.4	-	66	10440	c.10264C>T	c.(10264-10266)Ctg>Ttg	p.L3422L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3278						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)				CCTTTCCACAGGGAATTCTTG	0.498000													20	175					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204953	22204953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:22204953G>A	ENST00000374695.3	-	20	2669	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	864	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGCCGGGCTGGATGGGGTTG	0.687000													4	21					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221568	100221568	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:100221568G>A	ENST00000524871.1	+	24	3456	c.3166G>A	c.(3166-3168)Gct>Act	p.A1056T	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.A1056T|CNTN5_ENST00000418526.2_Missense_Mutation_p.A982T|CNTN5_ENST00000279463.3_Missense_Mutation_p.A1056T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1056	Fibronectin type-III 4.				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)		AGATGGAACAGCTAGTTCTCA	0.383000													8	40					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138669927	138669927	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:138669927C>T	ENST00000520602.1	-	25	2935	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	MCF2_ENST00000370578.4_Missense_Mutation_p.D969N|MCF2_ENST00000370573.4_Missense_Mutation_p.D824N|MCF2_ENST00000370576.4_Missense_Mutation_p.D824N|MCF2_ENST00000536274.1_Missense_Mutation_p.D785N|MCF2_ENST00000338585.6_Missense_Mutation_p.D840N|MCF2_ENST00000519895.1_Missense_Mutation_p.D900N|MCF2_ENST00000414978.1_Missense_Mutation_p.D884N			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	824					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTTAATTGATCCTGTTGCTTT	0.333000													13	20					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641066	99641066	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:99641066G>A	ENST00000345514.2	-	3	2160	c.1894C>T	c.(1894-1896)Ccg>Tcg	p.P632S	BCL11B_ENST00000443726.2_Missense_Mutation_p.P509S|BCL11B_ENST00000357195.3_Missense_Mutation_p.P703S	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	703	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCTCGGACGGGATGAGCGCG	0.706000			T	TLX3	T-ALL								7	30					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001304	52001304	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52001304G>A	ENST00000291707.3	-	5	1428	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S340F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	458	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGCTCAGGGAAATGTGCTG	0.592000													11	69					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68942750	68942750	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:68942750C>T	ENST00000288368.4	+	6	839	c.562C>T	c.(562-564)Cca>Tca	p.P188S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	188	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAGCGGACTCCACGGAAACA	0.458000													8	30					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456732	5456732	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:5456732G>A	ENST00000345221.3	-	5	3056	c.2502C>T	c.(2500-2502)cgC>cgT	p.R834R	NLRP1_ENST00000262467.5_Silent_p.R834R|NLRP1_ENST00000269280.4_Silent_p.R834R|NLRP1_ENST00000572272.1_Silent_p.R834R|NLRP1_ENST00000354411.3_Silent_p.R834R|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.R834R	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	834					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)				GGCAGCGAGGGCGTCTCAGGG	0.572000													14	43					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322974	31322974	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:31322974C>T	ENST00000269197.5	+	12	3162	c.3162C>T	c.(3160-3162)ctC>ctT	p.L1054L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1054	Ala-rich.				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						CCAGGACCCTCGCAGATATCA	0.592000													4	31					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28581686	28581686	+	Silent	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28581686T>C	ENST00000434452.1	-	14	2287	c.2133A>G	c.(2131-2133)gtA>gtG	p.V711V	DSC3_ENST00000360428.4_Silent_p.V711V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	711					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAACTCCACATACTAAAGTTA	0.299000													11	44					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166573	9166573	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:9166573G>A	ENST00000383836.3	-	2	523	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.F32F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	32	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGACATTTGAACTGCTCCA	0.607000			T	RAF1	pilocytic astrocytoma								18	64					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415301	65415301	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:65415301C>T	ENST00000330909.8	-	12	2060	c.2061G>A	c.(2059-2061)gtG>gtA	p.V687V	MAGI1_ENST00000402939.2_Silent_p.V687V|MAGI1_ENST00000497477.2_Silent_p.V687V|MAGI1_ENST00000483466.1_Silent_p.V687V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	687	PDZ 3.				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)		TATTAACTTCCACTATGAGAT	0.498000													8	71					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706696	96706696	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:96706696G>A	ENST00000389672.5	+	3	1011	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	EPHA6_ENST00000542517.1_Missense_Mutation_p.E231K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E325K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	230						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						CTCTTTGGTTGAAGTACGGGG	0.473000													32	106					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805902	58805902	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58805902C>T	ENST00000196548.5	+	4	859	c.728C>T	c.(727-729)cCa>cTa	p.P243L	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGGCCATTCCAATTACGGAA	0.493000													5	51					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944083	74944083	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:74944083G>A	ENST00000569840.2	+	17	2669	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A708T|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A697T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	699						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTGGGAGGGCCTGCACCGA	0.682000													6	27					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486428	125486428	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:125486428C>T	ENST00000259466.1	+	1	160	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTACTCTGACCCCAGGCTCCA	0.473000													13	62					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687793	11687793	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11687793C>T	ENST00000262442.3	+	41	8066	c.7998C>T	c.(7996-7998)ttC>ttT	p.F2666F	DNAH9_ENST00000454412.2_Silent_p.F2666F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2666	AAA 3 (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)		CTACCACCTTCCTACCCACAG	0.522000													34	126					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91041469	91041469	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:91041469C>T	ENST00000375859.3	+	2	293	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.F5F	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	5					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGACCCCATTCGGAAAGACAC	0.388000													5	36					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950481	118950481	+	Silent	SNP	C	C	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:118950481C>A	ENST00000328252.3	+	2	1833	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	488	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTTTGACCCCGACTCTCCAC	0.483000													8	47					0.000157383	0.00015812	1	1	0
DFNB31	25861	broad.mit.edu	37	9	117266558	117266558	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:117266558G>A	ENST00000362057.3	-	1	692	c.524C>T	c.(523-525)tCt>tTt	p.S175F	DFNB31_ENST00000480518.1_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S175F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	175	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAGCTAGAGAGCCTGGTTC	0.647000													26	130					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136512841	136512841	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136512841C>T	ENST00000308191.6	+	13	1519	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	406	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTGGGCCACCTCGCACACAA	0.622000													3	29					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791714	169791714	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:169791714G>A	ENST00000263817.6	-	23	3160	c.3036C>T	c.(3034-3036)ctC>ctT	p.L1012L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1012	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGCTGAAATGGAGCCCCTCAT	0.423000													46	113					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165173164	165173164	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:165173164G>A	ENST00000342310.3	-	9	1484	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.P368S|LMX1A_ENST00000294816.2_Missense_Mutation_p.P368S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	368						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGGTCAATGGGGTTTCCCACT	0.488000													10	76					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764489	77764489	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:77764489C>T	ENST00000354212.4	-	17	3133	c.2880G>A	c.(2878-2880)ggG>ggA	p.G960G	MAGI2_ENST00000419488.1_Silent_p.G946G|MAGI2_ENST00000522391.1_Silent_p.G960G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	960	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCAGGACTCCCATCAATGA	0.483000													17	113					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13658471	13658471	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:13658471A>G	ENST00000378572.3	+	9	1026	c.866A>G	c.(865-867)cAt>cGt	p.H289R		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	289					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		p.H289R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GTTGGTATCCATGCCAGAACT	0.423000													8	72					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133827912	133827912	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:133827912C>T	ENST00000285928.2	+	4	654	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	195							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCAAAAACCTCAAGGTAGACT	0.323000													7	94					0	0	1	0	0
AKIP1	56672	broad.mit.edu	37	11	8933051	8933051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:8933051C>T	ENST00000529876.1	+	1	316	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	AKIP1_ENST00000396648.2_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000309357.4_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000309377.4_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000534506.1_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000525005.1_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000534147.1_Nonsense_Mutation_p.Q19*|AKIP1_ENST00000299576.5_Nonsense_Mutation_p.Q19*			Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	19						nucleus	protein binding			kidney(1)|large_intestine(2)|lung(2)	5						ACGTTCCCTGCAGCGTTCAGC	0.642000													8	22					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539604	55539604	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55539604G>A	ENST00000220676.1	+	4	3310	c.3162G>A	c.(3160-3162)caG>caA	p.Q1054Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1054					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGTTTACCAGGAAATAAACC	0.378000													14	71					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298635	75298635	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:75298635C>T	ENST00000304771.3	-	4	2661	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	MAP6_ENST00000526740.1_Silent_p.K308K|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	637	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCTTGATCCTTGATAGGTG	0.522000													23	115					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730909	127730909	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:127730909G>A	ENST00000508053.1	-	15	2111	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FBN2_ENST00000262464.4_Silent_p.L379L|FBN2_ENST00000508989.1_Silent_p.L346L			P35556	FBN2_HUMAN	fibrillin 2	379	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTCCCCGGGAGCTCTTGTG	0.532000													11	40					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92158808	92158808	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:92158808G>A	ENST00000481551.1	+	2	171	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	RBM48_ENST00000265732.5_Missense_Mutation_p.E44K			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	44							nucleotide binding										AATCAATTTGGAATCTCAGTA	0.353000													12	69					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963320	88963320	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88963320G>A	ENST00000333190.4	+	4	1633	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	342						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACCAGCAGAGAAAAAGAAAC	0.353000										HNSCC(36;0.09)			3	19					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142168486G>A	ENST00000454561.2	-	0	437																											ATCTAGGAGGGAAGTTTCCTC	0.527000													15	105					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837302	23837302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:23837302G>A	ENST00000359788.4	-	4	601	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	145					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATCACATTGAAACATTTTG	0.303000													10	28					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276419	75276419	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:75276419C>T	ENST00000325680.7	+	7	4982	c.4858C>T	c.(4858-4860)Cct>Tct	p.P1620S	YLPM1_ENST00000238571.3_Missense_Mutation_p.P1425S|YLPM1_ENST00000552421.1_Missense_Mutation_p.P914S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.P1620S(1)|p.P1425S(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CATTCCCCCTCCTGGCCCAGT	0.493000													15	44					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													15	45					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	194890	194890	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:194890T>C	ENST00000328278.3	+	2	995	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	323										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GGACATGGCCTTCTTGGCAGA	0.627000													5	32					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566141	155566141	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:155566141C>T	ENST00000295101.2	+	2	1206	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	243					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGGTGAGTTCCTTCCCCTTG	0.458000													26	36					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945792	58945792	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58945792A>T	ENST00000254166.3	-	3	1419	c.1019T>A	c.(1018-1020)aTt>aAt	p.I340N		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	340						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCCTGAGTGAATTCTCTGATG	0.408000													11	51					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702667	120702667	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:120702667G>A	ENST00000527524.2	+	7	905	c.618G>A	c.(616-618)gaG>gaA	p.E206E	GRIK4_ENST00000438375.2_Silent_p.E206E			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	206					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCTCAAGGAGATCCGGGACG	0.617000													34	156					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25440086	25440086	+	RNA	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:25440086T>C	ENST00000424208.1	+	0	1460				SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1																						GATGAGAAACTTATATTGTCT	0.512000													93	377					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403518	69403518	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69403518C>T	ENST00000317746.2	-	6	1460	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	473					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GTGCTTGGCTCCTTTATGGCG	0.483000													32	105					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58832826	58832826	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:58832826C>T	ENST00000355431.3	+	22	3774	c.3401C>T	c.(3400-3402)cCa>cTa	p.P1134L	ARID4A_ENST00000395168.3_Intron|ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000431317.2_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1134					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTATCTAAGCCACAGAAACTT	0.383000													62	233					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245927	117245927	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:117245927T>G	ENST00000332958.2	+	15	1667	c.1651T>G	c.(1651-1653)Tta>Gta	p.L551V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	551					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTACAGAATTTATTGGACAA	0.313000													4	39					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101576282	101576282	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:101576282C>T	ENST00000326172.5	+	11	2197	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P	NFKBIZ_ENST00000394054.2_Silent_p.P594P|NFKBIZ_ENST00000326151.5_Silent_p.P572P	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	694	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATTTGGTTCCCGATGGCCCTG	0.532000													16	56					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559536	129559536	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:129559536C>T	ENST00000422113.2	-	9	2510	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	TMEM132D_ENST00000389441.4_Silent_p.G266G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	728						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAGTCTTTCCCATCGTAAA	0.458000													21	74					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595228	55595228	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55595228C>T	ENST00000378397.1	+	1	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACCACTTCTTCTGTGATCTAC	0.463000										HNSCC(27;0.073)			37	177					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347181	222347181	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:222347181G>A	ENST00000281821.2	-	5	1250	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	EPHA4_ENST00000409854.1_Silent_p.L403L|EPHA4_ENST00000409938.1_Silent_p.L403L|EPHA4_ENST00000392071.4_Silent_p.L352L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	403	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TATGAGCTAGGAGGTCAGTGA	0.512000													97	241					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792410	23792410	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:23792410G>A	ENST00000354639.3	+	9	1487	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	STK31_ENST00000433467.2_Missense_Mutation_p.M364I|STK31_ENST00000428484.1_Missense_Mutation_p.M341I|STK31_ENST00000355870.3_Missense_Mutation_p.M364I|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M364I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACCAGAATGAAAAATCTGG	0.338000													6	62					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482845	60482845	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:60482845C>T	ENST00000300226.2	+	7	914	c.711C>T	c.(709-711)acC>acT	p.T237T		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		AACCGGTGACCTCACCACCAA	0.483000													6	47					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405379	113405379	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113405379T>G	ENST00000228928.7	+	13	3025	c.2846T>G	c.(2845-2847)gTg>gGg	p.V949G	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	949	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ATCCGGCTGGTGAAGCACTGG	0.582000													6	25					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980104	6980104	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:6980104C>T	ENST00000576617.1	-	5	569	c.300G>A	c.(298-300)acG>acA	p.T100T	CLEC10A_ENST00000571664.1_Silent_p.T100T|CLEC10A_ENST00000416562.2_Silent_p.T100T|CLEC10A_ENST00000254868.4_Silent_p.T100T			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	100			T -> M (in dbSNP:rs35318160).		endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GAGATGCTATCGTTTCTTCCA	0.607000													65	277					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356782	97356782	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97356782G>A	ENST00000389672.5	+	14	2678	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	EPHA6_ENST00000514100.1_Missense_Mutation_p.M272I|EPHA6_ENST00000502694.1_Missense_Mutation_p.M272I|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	785	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						CATCAGGCATGAAGTATCTTT	0.418000													39	168					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38936092C>T	ENST00000302328.3	-	15	2965	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E923K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E923K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E923K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	923					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)	ACGTCATCTTCCTCCTCCGCA	0.498000													41	104					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82450161	82450161	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:82450161G>A	ENST00000268206.7	-	17	2091	c.1923C>T	c.(1921-1923)aaC>aaT	p.N641N	EFTUD1_ENST00000359445.3_Silent_p.N590N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	641					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATCAGCCTGGTTTAACAGTT	0.398000													14	55					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566169	5566169	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566169G>A	ENST00000322653.4	-	1	610	c.585C>T	c.(583-585)ctC>ctT	p.L195L	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAGGCGAGCTGGGCAA	0.488000													15	66					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954406	38954406	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38954406G>A	ENST00000355481.4	+	22	2833	c.2702G>A	c.(2701-2703)aGg>aAg	p.R901K	RYR1_ENST00000359596.3_Missense_Mutation_p.R901K|RYR1_ENST00000360985.3_Missense_Mutation_p.R901K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	901	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACAACAAGAGGCTGCACCCG	0.582000													39	150					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657234	42657234	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:42657234G>A	ENST00000372572.1	-	11	1402	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	FOXJ3_ENST00000361776.1_Missense_Mutation_p.S330L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S364L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S364L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.S364L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	364					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTGCAACCGAATTACTGCC	0.577000													44	261					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556818	173556818	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:173556818G>A	ENST00000367714.3	-	5	931	c.509C>T	c.(508-510)tCa>tTa	p.S170L	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.S68L	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	170					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGTTTTTAGTGAATTCACAGA	0.299000													11	40					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603908	111603908	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:111603908C>T	ENST00000431670.2	+	2	1395	c.984C>T	c.(982-984)acC>acT	p.T328T	PHLDB2_ENST00000393923.3_Silent_p.T355T|PHLDB2_ENST00000477695.1_Silent_p.T328T|PHLDB2_ENST00000393925.3_Silent_p.T328T|PHLDB2_ENST00000481953.1_Silent_p.T328T|PHLDB2_ENST00000412622.1_Silent_p.T328T|PHLDB2_ENST00000478922.1_Silent_p.T328T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	328						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TAAGTTCTACCCTCAGTGTCC	0.468000													15	49					0	0	1	0	0
BNIP2	663	broad.mit.edu	37	15	59964837	59964837	+	Splice_Site	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:59964837T>C	ENST00000267859.3	-	6	1030	c.938_splice	c.e6+1	p.K313_splice	BNIP2_ENST00000415213.2_Splice_Site_p.K254_splice|BNIP2_ENST00000607373.1_Splice_Site_p.K192_splice			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	192					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TATACTTACTTAAAAAGATTG	0.308000													14	58					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8452049	8452049	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8452049G>A	ENST00000360416.3	-	10	1114	c.976C>T	c.(976-978)Cct>Tct	p.P326S	MYH10_ENST00000269243.4_Missense_Mutation_p.P316S|MYH10_ENST00000396239.1_Missense_Mutation_p.P316S|MYH10_ENST00000379980.4_Missense_Mutation_p.P332S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	316	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCGGAATAGGAATATAGCCA	0.363000													16	116					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561226	44561226	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:44561226G>A	ENST00000332567.4	-	1	762	c.410C>T	c.(409-411)cCg>cTg	p.P137L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	137					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGTTGCCCCGGAGGTGTTCT	0.642000													30	123					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29055023	29055023	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29055023C>T	ENST00000377173.2	-	1	67	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TTTCCCAATTCATGATGACTC	0.353000													8	25					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427740	119427740	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:119427740G>A	ENST00000369429.3	-	8	1433	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	TBX15_ENST00000207157.3_Missense_Mutation_p.S369F			Q96SF7	TBX15_HUMAN	T-box 15	475						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGAAACTGGGAAGTGGGAAA	0.572000													12	32					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032768	193032768	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193032768C>T	ENST00000342358.4	-	18	2268	c.2151G>A	c.(2149-2151)atG>atA	p.M717I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	717					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)		TACCTGTAATCATCACAGTCC	0.423000													32	178					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55534779C>T	ENST00000220676.1	+	3	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	240					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATACTTGCTTCCTGCTAGATT	0.463000													16	52					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834131	168834131	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:168834131G>A	ENST00000464456.1	-	7	2165	c.965C>T	c.(964-966)tCt>tTt	p.S322F	MECOM_ENST00000494292.1_Missense_Mutation_p.S510F|MECOM_ENST00000468789.1_Missense_Mutation_p.S322F|MECOM_ENST00000392736.3_Missense_Mutation_p.S322F|MECOM_ENST00000433243.2_Missense_Mutation_p.S323F|MECOM_ENST00000472280.1_Missense_Mutation_p.S323F|MECOM_ENST00000264674.3_Missense_Mutation_p.S387F|MECOM_ENST00000460814.1_Missense_Mutation_p.S322F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTAACAGGAGAACTAGCAGG	0.453000													14	51					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776340	5776340	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5776340C>T	ENST00000317254.3	+	1	418	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCCTGGATCGCTATGTGGC	0.493000													15	75					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29649926	29649926	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:29649926G>A	ENST00000373779.3	+	27	4001	c.3872G>A	c.(3871-3873)gGc>gAc	p.G1291D	PTPRU_ENST00000428026.2_Missense_Mutation_p.G1288D|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1297D|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1301D|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1297D|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1297D	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1301	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGCAATATGGCCTCATGGAG	0.612000													4	15					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429564	29429564	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29429564C>T	ENST00000377136.1	+	4	483	c.18C>T	c.(16-18)tcC>tcT	p.S6S	OR2H1_ENST00000396792.2_Silent_p.S6S|OR2H1_ENST00000377133.1_Silent_p.S6S|OR2H1_ENST00000377132.1_Silent_p.S6S|OR2H1_ENST00000442615.1_Silent_p.S6S|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACCAAAGCTCCCCCATGGGCT	0.527000													26	104					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44035274	44035274	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:44035274C>T	ENST00000359947.4	+	6	733	c.393C>T	c.(391-393)ccC>ccT	p.P131P	PTPRF_ENST00000372413.3_Silent_p.P131P|PTPRF_ENST00000372414.3_Silent_p.P131P|PTPRF_ENST00000438120.1_Silent_p.P131P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	131					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGCTGCCCCCTGGGTTCC	0.602000													16	86					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722289	14722289	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:14722289C>T	ENST00000380911.3	-	1	426	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	128					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TTGGCTTCTTCCCGAAGAGGA	0.507000													6	47					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46489570	46489570	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:46489570C>T	ENST00000361297.2	+	15	1981	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	MAST2_ENST00000372008.1_Silent_p.F451F|MAST2_ENST00000372009.2_Silent_p.F496F	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	566	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TACTGACTTTCGCTGAGAACC	0.532000													10	64					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774549	10774549	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10774549G>A	ENST00000075503.3	-	10	1510	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	330	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTAGGAGGGACTTCAGGAT	0.423000										HNSCC(73;0.22)			20	82					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127673	93127673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93127673G>A	ENST00000298050.3	+	10	1190	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	CCDC67_ENST00000525646.1_Missense_Mutation_p.E106K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	364										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTCTGAGCAGGAAAGAATGAG	0.393000													5	8					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963026	54963026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54963026G>A	ENST00000243052.3	+	4	722	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PDE1B_ENST00000550620.1_Missense_Mutation_p.E76K|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Missense_Mutation_p.E55K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	96					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CGTGCCTTCGGAGGTGCGGGA	0.632000													29	121					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060680	58060680	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:58060680C>T	ENST00000556826.1	-	2	502	c.266G>A	c.(265-267)aGa>aAa	p.R89K	SLC35F4_ENST00000339762.6_Missense_Mutation_p.R125K|SLC35F4_ENST00000554729.1_5'UTR	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						TCTCTCAACTCTGTGTCCACA	0.453000													3	38					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91864912	91864912	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:91864912G>A	ENST00000394507.1	-	9	1317	c.534C>T	c.(532-534)ttC>ttT	p.F178F	KRIT1_ENST00000340022.2_Silent_p.F178F|KRIT1_ENST00000394503.2_Silent_p.F178F|KRIT1_ENST00000412043.2_Silent_p.F178F|KRIT1_ENST00000394505.2_Silent_p.F178F	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	178					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGAAGGTCGGAATAAAGCTG	0.388000													4	49					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6190872G>A	ENST00000530810.1	-	1	766	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000													6	32					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109707302	109707302	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:109707302G>A	ENST00000369939.3	+	3	639	c.456G>A	c.(454-456)ggG>ggA	p.G152G	KIAA1324_ENST00000529753.1_Silent_p.G152G	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	152					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGTCCACCGGGAACTGTACTT	0.622000													9	59					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46237999	46237999	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:46237999C>T	ENST00000256413.3	+	7	812	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	CTIF_ENST00000382998.4_Missense_Mutation_p.P173S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	173	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGCTACCACCCGATGCCCCA	0.522000											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	296					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259858	158259858	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158259858C>T	ENST00000368170.3	+	1	283	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	2					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438000													18	73					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622176	41622176	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:41622176G>A	ENST00000331105.2	+	2	155	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGAGATAAGGGAAAGCTGCCT	0.562000													35	283					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192811	132192811	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:132192811G>A	ENST00000359827.3	-	2	1604	c.642C>T	c.(640-642)ttC>ttT	p.F214F	PLXNA4_ENST00000423507.2_Silent_p.F214F|PLXNA4_ENST00000321063.4_Silent_p.F214F|PLXNA4_ENST00000378539.5_Silent_p.F214F			Q9HCM2	PLXA4_HUMAN	plexin A4	214	Sema.					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						AGACGTACGCGAACATGCCAT	0.502000													22	168					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987205	61987205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:61987205G>A	ENST00000409186.1	-	5	3132	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.Q343*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCACAGCCTGGACAGCTGCA	0.423000													18	101					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138651799	138651799	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:138651799C>T	ENST00000394800.2	+	9	1600	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	MATR3_ENST00000502499.1_Missense_Mutation_p.P13S|MATR3_ENST00000502929.1_Missense_Mutation_p.P351S|MATR3_ENST00000394805.3_Missense_Mutation_p.P351S|MATR3_ENST00000504203.1_Missense_Mutation_p.P13S|MATR3_ENST00000509990.1_Missense_Mutation_p.P351S|MATR3_ENST00000503811.1_Missense_Mutation_p.P63S|MATR3_ENST00000361059.2_Missense_Mutation_p.P351S|MATR3_ENST00000510056.1_Missense_Mutation_p.P351S			P43243	MATR3_HUMAN	matrin 3	351						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCTACAAATCCAGCACCAGG	0.388000													15	114					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20550128	20550128	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:20550128G>A	ENST00000504154.1	+	23	2615	c.2363G>A	c.(2362-2364)aGa>aAa	p.R788K	SLIT2_ENST00000503823.1_Missense_Mutation_p.R780K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R792K|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.R784K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	788					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						AGTAACAACAGAATAAGCACG	0.368000													3	38					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508852	98508852	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98508852C>T	ENST00000359863.4	+	17	2174	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V	TRRAP_ENST00000355540.3_Silent_p.V655V|TRRAP_ENST00000446306.3_Silent_p.V654V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	655					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAACTACGGTCCCTTATATGG	0.358000													10	58					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049429	36049429	+	Silent	SNP	C	C	T	rs147027144		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:36049429C>T	ENST00000282507.3	-	4	506	c.405G>A	c.(403-405)aaG>aaA	p.K135K	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.K101K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	135						integral to membrane	glucuronosyltransferase activity	p.K135K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTCATTCTTTAAGGAAT	0.363000													5	32					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130486655	130486655	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130486655C>T	ENST00000393748.4	+	7	1023	c.601C>T	c.(601-603)Cca>Tca	p.P201S	TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000373289.3_Intron			Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	0							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCGCAGCGACCAGGGCACTG	0.682000													4	34					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114498175	114498175	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:114498175G>A	ENST00000375353.3	+	4	334	c.307G>A	c.(307-309)Gcc>Acc	p.A103T		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CTTCTGCTGCGCCATCGTGGA	0.547000													9	51					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875181	247875181	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247875181G>A	ENST00000302084.2	-	1	924	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTTATTACGAAGCGTATAG	0.438000													15	118					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882663	228882663	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:228882663C>T	ENST00000392056.3	-	7	2953	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	SPHKAP_ENST00000344657.5_Silent_p.L969L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	969						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGGTGTCATCAGAAACTCAC	0.537000													36	66					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228520913	228520913	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:228520913G>A	ENST00000570156.2	+	69	18690	c.18616G>A	c.(18616-18618)Gga>Aga	p.G6206R	OBSCN_ENST00000284548.11_Missense_Mutation_p.G5249R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2883R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G2368R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G5249R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5249					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGGAGGGAACAGAGTC	0.652000													3	11					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081075	54081075	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:54081075C>T	ENST00000394705.2	-	2	1089	c.819G>A	c.(817-819)agG>agA	p.R273R	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	273						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATTCTGGTTCCTATACAGAG	0.547000													28	39					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574593	98574593	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98574593C>T	ENST00000359863.4	+	55	8467	c.8258C>T	c.(8257-8259)tCc>tTc	p.S2753F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S2735F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S2735F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2753	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTTACTCCCTGTTACAA	0.483000													9	128					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497527	50497527	+	Silent	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:50497527T>G	ENST00000267842.5	+	4	1171	c.939T>G	c.(937-939)ggT>ggG	p.G313G	SLC27A2_ENST00000544960.1_Silent_p.G78G|SLC27A2_ENST00000380902.4_Silent_p.G260G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	313					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTATATCGGTGAACTGCTTC	0.428000													16	104					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83390150	83390150	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:83390150G>A	ENST00000262752.2	-	7	577	c.570C>T	c.(568-570)caC>caT	p.H190H	RPS6KA6_ENST00000543399.1_Silent_p.H190H	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	190	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCCTAATTGGTGCAGATGAT	0.358000													7	8					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389398	20389398	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20389398C>T	ENST00000315915.4	+	1	658	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAGCACTTTCTCTCTCTTGG	0.423000													21	91					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559181	80559181	+	Missense_Mutation	SNP	G	G	T	rs61737961		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:80559181G>T	ENST00000335255.5	+	9	1963	c.1789G>T	c.(1789-1791)Gcg>Tcg	p.A597S	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	597					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATTTCAGCCGCGGCGAGTCC	0.627000													14	63					0.0202918	0.0203392	1	1	0
PON3	5446	broad.mit.edu	37	7	94993240	94993240	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:94993240C>T	ENST00000265627.5	-	6	640	c.630G>A	c.(628-630)agG>agA	p.R210R	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.R210R	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTAACCTCCCTTGGGCTGT	0.438000													24	187					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133112	38133112	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38133112G>A	ENST00000301659.4	+	12	1257	c.1139G>A	c.(1138-1140)gGt>gAt	p.G380D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	380					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GATAAAGAGGGTGTTTTCCCC	0.547000													26	123					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227188	21227188	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:21227188C>T	ENST00000233242.1	-	28	12167	c.12040G>A	c.(12040-12042)Gat>Aat	p.D4014N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4014					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATCTTCATCCATATCCATG	0.532000													14	35					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88938716	88938716	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88938716T>A	ENST00000556564.1	-	15	3027	c.2743A>T	c.(2743-2745)Aca>Tca	p.T915S	PTPN21_ENST00000328736.3_Missense_Mutation_p.T915S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	915	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTCGTGCTGTTGAGCACTCC	0.383000													6	53					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155756	111155756	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:111155756G>A	ENST00000262839.2	-	3	1581	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	221					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCCCAGACGGAAGGCAGTTA	0.557000													39	122					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949509	27949509	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:27949509G>A	ENST00000379992.2	-	6	1610	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	LINGO2_ENST00000308675.3_Silent_p.T387T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	387	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCTCACGGATGGTGTCTGGGC	0.517000													6	48					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350394	21350394	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:21350394G>A	ENST00000215739.8	+	18	2571	c.2212G>A	c.(2212-2214)Gac>Aac	p.D738N	LZTR1_ENST00000389355.3_Missense_Mutation_p.D719N|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	738					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCGCCCGAGGACTCGCTGCA	0.642000													16	86					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48625796	48625796	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48625796C>T	ENST00000006658.6	+	3	398	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SPATA20_ENST00000393244.3_Missense_Mutation_p.A33V|SPATA20_ENST00000356488.4_Missense_Mutation_p.A77V|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	77					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTACAACATGCCTACAATCCT	0.617000													5	47					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494101	55494101	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55494101G>A	ENST00000543010.1	+	6	1178	c.1035G>A	c.(1033-1035)cgG>cgA	p.R345R	NLRP2_ENST00000391721.4_Silent_p.R321R|NLRP2_ENST00000538819.1_Silent_p.R321R|NLRP2_ENST00000427260.2_Silent_p.R322R|NLRP2_ENST00000448584.2_Silent_p.R345R|NLRP2_ENST00000537859.1_Silent_p.R323R|NLRP2_ENST00000339757.7_Silent_p.R323R|NLRP2_ENST00000263437.6_Silent_p.R342R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	345	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGACCTCCGGATCCTGGCGG	0.637000													4	26					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183128	140183128	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140183128C>T	ENST00000522353.2	+	1	2346	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S782S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAATTAGCCGGGATAGAG	0.473000													18	103					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873194	55873194	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55873194C>T	ENST00000313503.1	+	1	676	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTTACCATCCTGAAAATTAA	0.383000										HNSCC(53;0.14)			15	77					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135500	55135500	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55135500G>A	ENST00000314706.3	+	1	141	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCTCACACAGAACCCTGAGG	0.428000													6	21					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205813319	205813319	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:205813319G>A	ENST00000367136.4	-	5	647	c.603C>T	c.(601-603)atC>atT	p.I201I	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	201						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCAGGGCTGAGATCCTCTGAG	0.527000													18	135					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29925699	29925699	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:29925699G>A	ENST00000445033.1	+	8	1100	c.791G>A	c.(790-792)gGg>gAg	p.G264E	RBMS3_ENST00000396583.3_Splice_Site_p.G277_splice|RBMS3_ENST00000456853.1_Splice_Site_p.G277_splice|RBMS3_ENST00000434693.2_Splice_Site_p.G263_splice|RBMS3_ENST00000452462.1_Splice_Site_p.G264_splice|RBMS3_ENST00000383766.2_Splice_Site_p.G263_splice|RBMS3_ENST00000273139.9_Splice_Site_p.G264_splice|RBMS3_ENST00000383767.2_Splice_Site_p.G264_splice			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	264						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATACAGAATGGGTAAGTAGAT	0.343000													7	49					0	0	1	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10562066	10562066	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10562066C>T	ENST00000539300.1	-	1	82	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KLRC4_ENST00000309384.1_Missense_Mutation_p.E37K																							TGGAATATTTCCTGTTTGGTT	0.393000													20	124					0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47489156	47489156	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:47489156A>C	ENST00000300408.3	-	3	206	c.134T>G	c.(133-135)gTg>gGg	p.V45G	PHB_ENST00000511832.1_Missense_Mutation_p.V45G|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_Intron	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	prohibitin	45					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			AATGTCCTGCACTCCACGGAA	0.463000													5	35					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403366	69403366	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69403366C>T	ENST00000317746.2	-	6	1612	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	524					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTCTTCTTTCCTGTTTTGGCA	0.408000													21	60					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371276	84371276	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:84371276C>T	ENST00000428679.2	-	5	990	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	SNAP91_ENST00000520213.1_Missense_Mutation_p.E133K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E133K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E133K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E133K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E133K|SNAP91_ENST00000521743.1_Missense_Mutation_p.E133K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E133K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E133K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	133	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAAGCCTTTTCATTCAAATAT	0.328000													5	34					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725052	7725052	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:7725052C>T	ENST00000303635.7	+	9	2652	c.2445C>T	c.(2443-2445)acC>acT	p.T815T	CAMTA1_ENST00000439411.2_Silent_p.T815T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCCCTTCACCCAGGCAGAGA	0.697000			T	WWTR1	epitheliod hemangioendothelioma								17	115					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339643	127339643	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:127339643G>A	ENST00000265056.7	+	14	2612	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	790					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.D790N(1)		ovary(3)|skin(2)|stomach(1)	6						GATCGAAGACGACGTCAACAT	0.597000													56	148					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64140111	64140111	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:64140111G>A	ENST00000545618.1	-	4	796	c.233C>T	c.(232-234)tCt>tTt	p.S78F	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.S83F|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S60F|ZC4H2_ENST00000447788.2_Missense_Mutation_p.S83F			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	83							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCATTCTCAGATTGTTTGAT	0.443000													25	55					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595376	82595376	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82595376G>A	ENST00000423517.2	-	4	4065	c.3728C>T	c.(3727-3729)cCt>cTt	p.P1243L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1243L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1182					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						TTTGTCTTCAGGGGTTGGCTT	0.378000													32	176					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003922	93003922	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:93003922C>T	ENST00000523629.1	-	7	1390	c.936G>A	c.(934-936)agG>agA	p.R312R	RUNX1T1_ENST00000265814.3_Silent_p.R312R|RUNX1T1_ENST00000518844.1_Silent_p.R285R|RUNX1T1_ENST00000520724.1_Silent_p.R275R|RUNX1T1_ENST00000436581.2_Silent_p.R323R|RUNX1T1_ENST00000396218.1_Silent_p.R285R|RUNX1T1_ENST00000422361.2_Silent_p.R275R|RUNX1T1_ENST00000360348.2_Silent_p.R275R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	312					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAGGAGTCCCTGTAGTGGT	0.547000													26	106					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771476	229771476	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:229771476C>T	ENST00000258243.2	+	4	1252	c.1116C>T	c.(1114-1116)atC>atT	p.I372I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	372						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACAACAATATCTACAACATCG	0.517000													6	48					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3319387	3319387	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3319387G>A	ENST00000378398.3	+	7	794	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.E237K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E237K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E237K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E238K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E238K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E237K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	237					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGAGTGTGACGAACTCTTCCA	0.617000			T	EVI1	"""MDS, AML"""								13	70					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78749103	78749103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:78749103G>A	ENST00000545128.1	+	10	1825	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.W429*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.W429*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	429	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTAATGACTGGAAAACCAATG	0.423000													7	32					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659890	30659890	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:30659890C>T	ENST00000215781.2	-	3	781	c.741G>A	c.(739-741)agG>agA	p.R247R	OSM_ENST00000403389.1_Silent_p.R226R	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	247					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGCTGTCCCCTGGTCATGA	0.657000													40	203					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65772707	65772707	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:65772707C>T	ENST00000341861.5	-	10	2777	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q	DPP8_ENST00000559233.1_Silent_p.Q399Q|DPP8_ENST00000358939.4_Silent_p.Q383Q|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000321118.7_Silent_p.Q399Q|DPP8_ENST00000321147.6_Silent_p.Q399Q|DPP8_ENST00000300141.6_Silent_p.Q383Q	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	399					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAGGCGAGTCTGGGAGCGAT	0.383000													7	43					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698456	48698456	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:48698456C>T	ENST00000544264.1	-	1	1892	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E538K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	538	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTCGTTCTCGTCTAGCACA	0.637000													12	59					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2876151G>A	ENST00000520002.1	-	53	8435	c.7880C>T	c.(7879-7881)tCc>tTc	p.S2627F	CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2627F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		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)		TGGGGGAAAGGAAAGGCTTCC	0.423000													25	104					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163876429	163876429	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:163876429T>A	ENST00000361752.3	+	2	812	c.261T>A	c.(259-261)taT>taA	p.Y87*	QKI_ENST00000453779.2_Nonsense_Mutation_p.Y87*|QKI_ENST00000392127.2_Nonsense_Mutation_p.Y87*|QKI_ENST00000424802.3_Nonsense_Mutation_p.Y87*|QKI_ENST00000361195.2_Nonsense_Mutation_p.Y87*|QKI_ENST00000275262.7_Nonsense_Mutation_p.Y87*	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	87	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGAAACTTTATGTGCCTGTAA	0.348000													27	107					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883328	57883328	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:57883328C>T	ENST00000262027.5	+	4	535	c.401C>T	c.(400-402)cCt>cTt	p.P134L	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	134	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAGAACTGTCCTTTCCTGGCT	0.498000													13	58					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63307112	63307112	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:63307112C>T	ENST00000317868.4	+	10	1310	c.1103C>T	c.(1102-1104)cCt>cTt	p.P368L	ATG4C_ENST00000371120.3_Missense_Mutation_p.P368L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	368					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TTCCACTGCCCTTCTCCCAAA	0.308000													6	26					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678237	87678237	+	Silent	SNP	C	C	T	rs148709536	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:87678237C>T	ENST00000284262.2	+	2	998	c.756C>T	c.(754-756)acC>acT	p.T252T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	252					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCATGAGCACCGTCAGCTCCA	0.662000													4	110					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49775435	49775435	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:49775435G>A	ENST00000267843.4	+	3	985	c.374G>A	c.(373-375)gGa>gAa	p.G125E	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	125					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AACAAGGAAGGAAAACTCTAT	0.343000													17	52					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130905	8130905	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8130905C>T	ENST00000600128.1	-	64	8742	c.8328G>A	c.(8326-8328)gaG>gaA	p.E2776E	FBN3_ENST00000601739.1_Silent_p.E2776E|FBN3_ENST00000270509.2_Silent_p.E2776E			Q75N90	FBN3_HUMAN	fibrillin 3	2776						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTCACCACCTCCAGCCGGT	0.667000													15	62					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43762487C>T	ENST00000244293.7	-	4	897	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000596730.1_Silent_p.G184G|PSG9_ENST00000270077.3_Silent_p.G370G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000593948.1_Silent_p.G277G|PSG9_ENST00000443718.3_Silent_p.G277G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	277	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000													41	266					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918508	16918508	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16918508C>T	ENST00000524140.2	+	18	4266	c.3848C>T	c.(3847-3849)cCc>cTc	p.P1283L	NWD1_ENST00000339803.6_Missense_Mutation_p.P1148L|NWD1_ENST00000523826.1_Missense_Mutation_p.P1077L|NWD1_ENST00000379808.3_Missense_Mutation_p.P1283L|NWD1_ENST00000552788.1_Missense_Mutation_p.P1283L|NWD1_ENST00000549814.1_Missense_Mutation_p.P1241L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1283							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTGTTCCCCCTGAATTCC	0.597000													15	58					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5214354	5214354	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:5214354C>T	ENST00000256496.3	+	4	547	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000419534.2_Missense_Mutation_p.R101C|ARL8B_ENST00000468010.1_Intron	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	101					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TGCTGCAGATCGTGAAAAGAT	0.318000													14	93					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67076895	67076895	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:67076895G>A	ENST00000308127.4	+	11	1267	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	SSH3_ENST00000376757.5_Silent_p.R363R|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	363	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACATGGCCCGGGAGATTGACA	0.627000													20	111					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965003	42965003	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:42965003G>A	ENST00000399770.2	+	2	479	c.479G>A	c.(478-480)aGa>aAa	p.R160K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	160	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAACTGGTTAGAAAGATTTTC	0.413000													22	80					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145438936	145438936	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:145438936G>A	ENST00000369317.4	+	1	468	c.134G>A	c.(133-135)aGg>aAg	p.R45K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	45					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGCCGTTAGGATCCTGGCT	0.542000													11	57					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149181	142149181	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142149181C>T	ENST00000390372.3	-	0	96																											TCGTTTTGATCAGGTGTGTGG	0.567000													26	156					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206470	116206470	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:116206470C>T	ENST00000355485.2	+	4	664	c.393C>T	c.(391-393)atC>atT	p.I131I	VANGL1_ENST00000369509.1_Silent_p.I131I|VANGL1_ENST00000369510.3_Silent_p.I129I|VANGL1_ENST00000310260.3_Silent_p.I131I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	131					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGCCTTCATCCTTTTACCTC	0.522000													15	54					0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19653818	19653818	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:19653818C>T	ENST00000375153.3	+	7	1356	c.716C>T	c.(715-717)cCc>cTc	p.P239L	PQLC2_ENST00000375155.3_Missense_Mutation_p.P239L|PQLC2_ENST00000400548.2_Missense_Mutation_p.P174L	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	239	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAAAAACCCCGAGGAGGGC	0.632000													18	90					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043126	153043126	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:153043126C>T	ENST00000367245.5	+	2	454	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	149						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CGACAAGCTTCCCTGGAACAA	0.498000													24	87					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147260	85147260	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:85147260C>T	ENST00000448803.2	+	2	394	c.102C>T	c.(100-102)atC>atT	p.I34I	ZSCAN2_ENST00000546148.1_Silent_p.I34I|ZSCAN2_ENST00000485222.2_Silent_p.I34I|ZSCAN2_ENST00000538076.1_Silent_p.I34I|ZSCAN2_ENST00000379358.3_Silent_p.I34I|ZSCAN2_ENST00000327179.6_Silent_p.I34I|ZSCAN2_ENST00000334141.3_Silent_p.I34I|ZSCAN2_ENST00000541040.1_Silent_p.I34I|ZSCAN2_ENST00000358472.3_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	34					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACCATGATCCTGGAGGATG	0.612000													14	78					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396885	396885	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:396885C>T	ENST00000262320.3	-	2	512	c.141G>A	c.(139-141)ggG>ggA	p.G47G	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Silent_p.G47G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	47					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAACACCTTTCCCGGAGCAGA	0.627000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	51					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828985	115828985	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:115828985C>T	ENST00000369512.2	-	3	600	c.432G>A	c.(430-432)ggG>ggA	p.G144G	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	144					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGGTCTTATCCCCAACCCACA	0.517000													18	115					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265383	140265383	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:140265383G>T	ENST00000458420.3	+	10	1724	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	512					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCACAGTTTGCTCAGTTCTT	0.527000										HNSCC(16;0.037)			16	41					1.99824e-07	2.01586e-07	1	1	0
ADAM21	8747	broad.mit.edu	37	14	70925762	70925762	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70925762G>A	ENST00000603540.1	+	2	1804	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	ADAM21_ENST00000267499.3_Missense_Mutation_p.E516K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	516	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCATTGCAGGGAGATTTTTGG	0.423000													11	80					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15740024C>T	ENST00000441682.2	+	0	1480							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGCAGAAGTTCGCGATGGCAG	0.657000													3	19					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603669	28603669	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:28603669C>T	ENST00000533150.1	-	3	1707	c.591G>A	c.(589-591)aaG>aaA	p.K197K	SULT1A2_ENST00000335715.4_Silent_p.K230K|SULT1A2_ENST00000395630.1_Silent_p.K230K			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	230					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTTCATCTCCTTGAACGACG	0.557000													34	135					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73949623	73949623	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:73949623G>A	ENST00000537812.1	-	7	1387	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	ACOX1_ENST00000293217.5_Missense_Mutation_p.L285F|ACOX1_ENST00000301608.4_Missense_Mutation_p.L285F	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	285					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCTCCCACAAGGAAGGACCTG	0.532000													16	57					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586860	42586860	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:42586860C>T	ENST00000289957.2	+	5	538	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	137					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCGTGAAATCAAACGGAACT	0.542000													11	52					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113148	18113148	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:18113148C>T	ENST00000403915.1	+	3	1324	c.873C>T	c.(871-873)atC>atT	p.I291I	KCNS3_ENST00000304101.4_Silent_p.I291I|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	291					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTCCAGATCCTACGGCTTA	0.488000													28	91					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66031185	66031185	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66031185C>T	ENST00000394065.2	+	4	1408	c.390C>T	c.(388-390)atC>atT	p.I130I	KLC2_ENST00000394067.2_Silent_p.I269I|KLC2_ENST00000421552.1_Silent_p.I192I|KLC2_ENST00000417856.1_Silent_p.I269I|KLC2_ENST00000316924.5_Silent_p.I269I|KLC2_ENST00000394066.2_Silent_p.I192I|KLC2_ENST00000394078.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	269					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCTGGCCATCCGGGAGAAAA	0.627000													13	77					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247180	142247180	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142247180G>A	ENST00000390361.3	-	0	325																											GAGTAGAGACGGATCCCTCAG	0.572000													20	142					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3520922	3520922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:3520922G>A	ENST00000262919.5	+	3	616	c.548G>A	c.(547-549)tGg>tAg	p.W183*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.W183*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	183	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGTGTAGTTGGGACCATTTA	0.328000													58	210					0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204553	103204553	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:103204553C>T	ENST00000502978.1	+	1	1	c.1C>T	c.(1-3)Cgc>Tgc	p.R1C	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000395067.2_Silent_p.I111I|MSANTD3_ENST00000374885.1_Silent_p.I111I	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0					multicellular organismal development	integral to membrane|plasma membrane		p.I111I(1)									AGGAGAAGATCGCCAGCATGC	0.582000													13	47					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035226	58035226	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:58035226G>A	ENST00000395079.2	-	1	506	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ACACCACAATGAGAATGTTCC	0.473000													14	62					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267003	48267003	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:48267003G>A	ENST00000302329.3	+	1	396	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACCACTATGTGGCCATCTGCA	0.507000													12	66					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:47812290C>G	ENST00000285106.6	-	5	1182	c.468G>C	c.(466-468)caG>caC	p.Q156H	CXXC1_ENST00000589940.1_Missense_Mutation_p.Q156H|CXXC1_ENST00000412036.2_Missense_Mutation_p.Q156H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	156					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.Q156H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						gctgctgctgctggtgatgct	0.557000													3	43					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46295125	46295125	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:46295125C>T	ENST00000361297.2	+	3	623	c.340C>T	c.(340-342)Cct>Tct	p.P114S	MAST2_ENST00000372009.2_Missense_Mutation_p.P114S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	114					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCAGCTGCTCCCTTTGTCCAG	0.398000													11	48					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16252648	16252648	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:16252648G>A	ENST00000339732.5	+	5	1600	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GALNT15_ENST00000437509.1_Missense_Mutation_p.G366E	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GTGGTGCCCGGAGAGGTGGTG	0.577000													13	85					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508198	167508198	+	Missense_Mutation	SNP	G	G	A	rs61750375	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:167508198G>A	ENST00000295777.5	+	3	720	c.289G>A	c.(289-291)Gta>Ata	p.V97I	SERPINI1_ENST00000446050.2_Missense_Mutation_p.V97I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	97					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAAACATGGTAACTGCTAA	0.338000													10	51					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476961	20476961	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20476961C>T	ENST00000573854.1	+	3	414	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ACSM2A_ENST00000575690.1_Silent_p.A100A|ACSM2A_ENST00000417235.2_Silent_p.A21A|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.A100A|ACSM2A_ENST00000219054.6_Silent_p.A100A|ACSM2A_ENST00000424070.1_Silent_p.A100A|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	100					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCTCGGGAGCCTGTGGCCTGC	0.587000													5	113					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10515084	10515084	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:10515084C>T	ENST00000444303.2	+	6	1123	c.651C>T	c.(649-651)gtC>gtT	p.V217V	AMPD3_ENST00000396554.3_Silent_p.V385V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	376					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CACTGGATGTCCACGCGGTGA	0.637000													11	45					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963433	88963433	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88963433G>A	ENST00000333190.4	+	4	1746	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	379						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATGCCAGGATATCTGAAT	0.388000										HNSCC(36;0.09)			5	34					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88970769	88970769	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88970769C>T	ENST00000556564.1	-	6	871	c.587_splice	c.e6+1	p.R196_splice	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Splice_Site_p.R196_splice|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	196	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTAGAGTTACCTGTATTTCTG	0.303000													17	65					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539102	72539102	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72539102G>A	ENST00000330793.1	-	3	785	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	142	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGCTCTGGGGGCTGGAGGC	0.612000													12	98					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598661	28598661	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28598661C>T	ENST00000434452.1	-	8	1202	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	DSC3_ENST00000360428.4_Missense_Mutation_p.D350N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	350	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTGCATTATCATTTGAATCT	0.308000													4	55					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735385	13735385	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13735385G>A	ENST00000265104.4	-	68	11720	c.11616C>T	c.(11614-11616)atC>atT	p.I3872I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3872					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)					TCATGTGCTCGATGATATTAG	0.443000									Kartagener syndrome				6	31					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159692398	159692398	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:159692398G>A	ENST00000297267.9	+	23	5809	c.5609G>A	c.(5608-5610)gGg>gAg	p.G1870E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1807E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1870						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCAGGTTTGGGAACATCGGC	0.562000													8	19					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724186	142724186	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142724186G>A	ENST00000350513.2	-	1	96	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCTAGAAGGTGGAATTCAGTG	0.423000													14	63					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674859	94674859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94674859G>A	ENST00000260526.6	-	4	570	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	ARHGAP29_ENST00000370217.3_Nonsense_Mutation_p.Q130*	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	130					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AACACTTCCTGGAAGAGATCG	0.328000													10	23					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86820320	86820320	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:86820320C>T	ENST00000414194.2	+	14	2465	c.673C>T	c.(673-675)Cta>Tta	p.L225L	DMTF1_ENST00000394703.5_Silent_p.L491L|DMTF1_ENST00000413276.2_Silent_p.L421L|DMTF1_ENST00000331242.7_Silent_p.L491L|DMTF1_ENST00000432937.2_Silent_p.L403L			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	491	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CAGTGGAACACTACAGACATT	0.378000													4	38					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258181	16258181	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:16258181C>T	ENST00000570786.1	+	0	536				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						TTCTGCATTTCGAGGCTCCGC	0.592000													3	13					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													7	47					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318297	7318297	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7318297C>T	ENST00000302926.2	+	5	940	c.867C>T	c.(865-867)gcC>gcT	p.A289A	NLGN2_ENST00000575301.1_Silent_p.A289A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	289					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AGGCCATCGCCCAGAGTGGCA	0.647000													10	56					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829157	96829157	+	Translation_Start_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96829157C>T	ENST00000371270.3	-	1	97	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C8_ENST00000535898.1_5'UTR|CYP2C8_ENST00000539050.1_5'UTR	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	1					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)	CAAAAGGTTCCATTGAAGCCT	0.448000													3	33					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722319	7722319	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7722319G>A	ENST00000572933.1	+	71	12213	c.10753G>A	c.(10753-10755)Gag>Aag	p.E3585K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3585K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3585	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACAGCCACAGAGGTGACTGA	0.622000													12	25					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588657	72588657	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72588657G>A	ENST00000392620.1	+	3	834	c.472G>A	c.(472-474)Gga>Aga	p.G158R	C17orf77_ENST00000328023.2_Missense_Mutation_p.G158R	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	158						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGAGGAGCCAGGAGGAACCCA	0.577000													9	43					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34876803	34876803	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:34876803G>A	ENST00000381831.3	-	21	3020	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L	GART_ENST00000381839.3_Silent_p.L919L|GART_ENST00000543717.1_Silent_p.L471L|GART_ENST00000381815.4_Silent_p.L919L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	919	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TAAAAGAAGGGAGCAAGGATG	0.393000													9	70					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000													25	119					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595675	111595675	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:111595675C>T	ENST00000261486.5	-	8	920	c.642_splice	c.e8-1	p.G215_splice		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	215	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTGTTTTCTCCCTGCAAAAA	0.323000													11	42					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17328281	17328281	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:17328281C>T	ENST00000595101.1	+	5	422	c.404C>T	c.(403-405)cCa>cTa	p.P135L	USE1_ENST00000379776.4_Intron|USE1_ENST00000263897.5_Intron|USE1_ENST00000445667.2_Intron|USE1_ENST00000596136.1_Intron			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	0					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						GGTGAGTCACCATGAACACAA	0.577000													11	23					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566399	5566399	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566399C>T	ENST00000322653.4	-	1	380	c.355G>A	c.(355-357)Gat>Aat	p.D119N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTGAATCCAGGACAAAG	0.448000													16	78					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274703	29274703	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29274703C>T	ENST00000377160.2	+	1	301	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCCCCCAGTCCATTGCAAATT	0.463000													44	189					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844800	47844800	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47844800C>T	ENST00000595464.1	+	2	962	c.744C>T	c.(742-744)ccC>ccT	p.P248P	C5AR2_ENST00000600626.1_Silent_p.P248P|C5AR2_ENST00000257267.2_Silent_p.P248P	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GCTGGGCACCCTACCACCTGC	0.701000													15	58					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131962	207131962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:207131962G>A	ENST00000324852.4	-	8	2107	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	500						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TGGTCTGCTTGGGGGTTCACT	0.547000													24	112					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10015506	10015506	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:10015506G>A	ENST00000256190.8	-	10	1152	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	339					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGTGGAGGAGGAAAAGCATGA	0.294000													5	47					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641921	106641921	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106641921C>T	ENST00000390605.2	-	0	105																											CCTGGTTTCTCTCTCAGCCCT	0.582000													10	44					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997760	101997760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:101997760C>T	ENST00000251127.6	-	7	737	c.656G>A	c.(655-657)tGg>tAg	p.W219*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.W219*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	219						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)					TAAACTATTCCAGGTTACATT	0.378000													9	37					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862783	5862783	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5862783G>A	ENST00000329322.5	-	1	344	c.345C>T	c.(343-345)atC>atT	p.I115I	OR52E6_ENST00000379946.2_Silent_p.I119I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCAATACGATGCTCTCCA	0.448000													19	151					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039043	11039043	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:11039043C>T	ENST00000470054.1	-	0	1160									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGTCATTTCAGAGTCCATC	0.373000													8	294					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712496	121712496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121712496C>T	ENST00000273691.3	-	6	1073	c.968G>A	c.(967-969)gGg>gAg	p.G323E	ILDR1_ENST00000462014.1_Missense_Mutation_p.G335E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G367E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G278E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	367						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGCTTCTCCCCTCCCTCAG	0.592000													15	72					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70935696	70935696	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70935696C>T	ENST00000357250.6	-	37	2678	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.K597K|COL9A1_ENST00000320755.7_Silent_p.K597K|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	840	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACGCTCCCCCTTTTCTCCCA	0.423000													15	66					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:11461723C>T	ENST00000279575.1	-	3	227	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_ENST00000535904.1_Missense_Mutation_p.G65E|PRB4_ENST00000445719.2_Missense_Mutation_p.G65E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)			90	454					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910263	57910263	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:57910263G>A	ENST00000574161.1	+	3	314	c.195G>A	c.(193-195)agG>agA	p.R65R	GCOM1_ENST00000380561.2_Silent_p.R65R|GCOM1_ENST00000572390.1_Silent_p.R65R|GCOM1_ENST00000587652.1_Silent_p.R65R|GCOM1_ENST00000396180.1_Silent_p.R65R|MYZAP_ENST00000380565.4_Silent_p.R65R|GCOM1_ENST00000380568.3_Silent_p.R65R|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Silent_p.R65R|GCOM1_ENST00000380569.2_Silent_p.R65R|GCOM1_ENST00000380560.2_Silent_p.R65R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		65					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AACCTACCAGGAAACTTCCTC	0.423000													10	50					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097044	69097044	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69097044C>T	ENST00000332644.5	-	7	724	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	188	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						GGAGCTTTTTCCATTCACAAT	0.483000													11	44					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39817410	39817410	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:39817410G>A	ENST00000442448.1	-	4	445	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000453032.2_Intron|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000417133.2_Silent_p.V58V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	58					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CCTGCTGAGGGACGCGTGGGC	0.562000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								9	64					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464459	25464459	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:25464459C>T	ENST00000264709.3	-	17	2391	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	DNMT3A_ENST00000321117.5_Missense_Mutation_p.G685E|DNMT3A_ENST00000402667.1_Missense_Mutation_p.G462E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.G496E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	685					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGACGTCCCCGACGTACAT	0.627000			"""Mis, F, N, S"""		AML								21	49					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438495	25438495	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:25438495C>T	ENST00000424208.1	+	0	1354				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1																						CTTATATTATCCTGAAGAGAG	0.522000													84	437					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890763	70890763	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:70890763C>T	ENST00000264436.3	-	16	2419	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.E659K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	659					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGATTTCCTCTGCCGTCTGC	0.572000													27	141					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973175	77973175	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:77973175C>T	ENST00000354212.4	-	9	1581	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	MAGI2_ENST00000419488.1_Missense_Mutation_p.G443E|MAGI2_ENST00000536571.1_Missense_Mutation_p.G275E|MAGI2_ENST00000535697.1_Missense_Mutation_p.G280E|MAGI2_ENST00000522391.1_Missense_Mutation_p.G443E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	443	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCTCGTCTCCACCAATGAT	0.483000													30	48					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322369	5322369	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5322369G>A	ENST00000380224.1	-	1	857	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	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	270					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)		ATGGTAATGGGGACCACATGA	0.423000													5	56					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448181	24448181	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:24448181G>A	ENST00000230036.1	-	17	1712	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	534				VIGS -> MLGT (in Ref. 6; AA sequence).		extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTGCAAAAGGGGAGCCGATGA	0.532000													22	60					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085072	64085072	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:64085072C>T	ENST00000295902.6	-	8	2775	c.2190G>A	c.(2188-2190)cgG>cgA	p.R730R	PRICKLE2_ENST00000564377.1_Silent_p.R786R|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTGGAAGCTCCGCTGGCGCA	0.622000													16	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456842	25456842	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:25456842G>A	ENST00000424208.1	+	0	2473				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GTGCACTGAAGCTCAGGCCCT	0.617000													12	42					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314596	46314596	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:46314596C>T	ENST00000510861.1	-	5	566	c.393G>A	c.(391-393)ggG>ggA	p.G131G	GABRA2_ENST00000540012.1_Silent_p.G76G|GABRA2_ENST00000356504.1_Silent_p.G131G|GABRA2_ENST00000514090.1_Silent_p.G131G|GABRA2_ENST00000381620.4_Silent_p.G131G|GABRA2_ENST00000507069.1_Silent_p.G131G|GABRA2_ENST00000515082.1_Silent_p.G131G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	131					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTTTTCCCATTGTGAA	0.348000													12	63					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627269	38627269	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38627269G>A	ENST00000413689.1	-	16	2893	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	SCN5A_ENST00000425664.1_Silent_p.I900I|SCN5A_ENST00000423572.2_Silent_p.I900I|SCN5A_ENST00000333535.4_Silent_p.I900I|SCN5A_ENST00000414099.2_Silent_p.I900I|SCN5A_ENST00000455624.2_Silent_p.I900I|SCN5A_ENST00000450102.2_Silent_p.I900I|SCN5A_ENST00000443581.1_Silent_p.I900I|SCN5A_ENST00000449557.2_Silent_p.I900I|SCN5A_ENST00000451551.2_Silent_p.I900I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	900					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACATGGTCTCGATCCACTCTC	0.542000													52	118					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627846	46627846	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:46627846C>T	ENST00000470495.1	-	2	2593	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	HOXB3_ENST00000476342.1_Silent_p.G382G|HOXB3_ENST00000472863.1_Silent_p.G309G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Silent_p.G248G|HOXB3_ENST00000460160.1_Silent_p.G250G|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G250G|HOXB3_ENST00000311626.4_Silent_p.G382G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Silent_p.G309G|HOXB3_ENST00000498678.1_Silent_p.G382G			P14651	HXB3_HUMAN	homeobox B3	382					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGTCCAGGTTCCCGGAAGGGT	0.701000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	65					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570422	31570422	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:31570422G>A	ENST00000379416.3	-	29	3290	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1081					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)	AGCGCTGACAGAGGCAGCCGT	0.582000													36	85					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913314	87913314	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:87913314C>T	ENST00000380079.4	-	2	372	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.E91K|STEAP4_ENST00000414498.1_Missense_Mutation_p.E91K	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	91					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TCAGTTAATTCTGTGAGAAAA	0.393000													44	73					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597837	74597837	+	Missense_Mutation	SNP	G	G	A	rs149526947		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:74597837G>A	ENST00000361874.3	-	10	1276	c.959C>T	c.(958-960)tCc>tTc	p.S320F	DCTN1_ENST00000409868.1_Missense_Mutation_p.S303F|DCTN1_ENST00000407639.2_Missense_Mutation_p.S186F|DCTN1_ENST00000394003.3_Missense_Mutation_p.S313F|DCTN1_ENST00000409438.1_Missense_Mutation_p.S186F|DCTN1_ENST00000409240.1_Missense_Mutation_p.S283F|DCTN1_ENST00000409567.3_Missense_Mutation_p.S300F	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	320					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.S320F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCTGCAGGGACTCAGCCCG	0.557000													64	162					0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50284881	50284881	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:50284881T>C	ENST00000320634.3	-	6	545	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	FAIM2_ENST00000550890.1_Missense_Mutation_p.T105A	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	151					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GTCAGGTAGGTTGCAAAGAAC	0.542000													16	101					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170147352	170147352	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:170147352G>A	ENST00000328939.4	+	3	751	c.214G>A	c.(214-216)Gac>Aac	p.D72N	KCNIP1_ENST00000411494.1_Missense_Mutation_p.D83N|KCNIP1_ENST00000390656.4_Missense_Mutation_p.D72N|KCNIP1_ENST00000377360.4_Missense_Mutation_p.D81N|KCNIP1_ENST00000434108.1_Missense_Mutation_p.D72N|KCNIP1_ENST00000520740.1_Missense_Mutation_p.D44N	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	83	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCAACGAAGACACATTCAA	0.557000													16	43					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907802	3907802	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:3907802G>A	ENST00000450849.2	+	5	896	c.429G>A	c.(427-429)acG>acA	p.T143T	ATCAY_ENST00000301260.6_Silent_p.T143T|ATCAY_ENST00000600960.1_Silent_p.T143T|ATCAY_ENST00000398448.3_Silent_p.T149T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGGCACGACGGAGGACGGCA	0.637000													16	84					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699201	49699201	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:49699201C>T	ENST00000303221.5	-	6	903	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.E176K|EMB_ENST00000514111.1_Missense_Mutation_p.E180K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	230	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCCCCATCTTCCTCCAAAAGT	0.423000													7	26					0	0	1	0	0
FAM127B	26071	broad.mit.edu	37	X	134185923	134185923	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:134185923G>A	ENST00000370775.2	-	1	282	c.216C>T	c.(214-216)ctC>ctT	p.L72L	FAM127B_ENST00000520964.1_Intron	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	72										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CTGGCCCCGTGAGGCGGGTGA	0.602000													20	46					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898287	36898287	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:36898287C>T	ENST00000301807.6	-	12	3041	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G382S|TRANK1_ENST00000429976.2_Missense_Mutation_p.G932S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	932					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATTGATACCTTTCAGCTTC	0.502000													18	79					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759359	182759359	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:182759359C>T	ENST00000492597.1	-	10	1638	c.936G>A	c.(934-936)cgG>cgA	p.R312R	MCCC1_ENST00000265594.4_Silent_p.R421R|MCCC1_ENST00000539926.1_Silent_p.R286R			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	421	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.R421R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTTACCTTGCCGTACTCCAG	0.418000													9	76					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784493	9784493	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:9784493C>T	ENST00000304374.2	+	1	1236	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	280					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTGCGCGCCCGACACCAGCC	0.637000													10	30					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38618186	38618186	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38618186C>T	ENST00000413689.1	-	19	3670	c.3477G>A	c.(3475-3477)caG>caA	p.Q1159Q	SCN5A_ENST00000425664.1_Silent_p.Q1159Q|SCN5A_ENST00000423572.2_Silent_p.Q1158Q|SCN5A_ENST00000333535.4_Silent_p.Q1159Q|SCN5A_ENST00000414099.2_Silent_p.Q1159Q|SCN5A_ENST00000455624.2_Silent_p.Q1158Q|SCN5A_ENST00000450102.2_Silent_p.Q1105Q|SCN5A_ENST00000443581.1_Silent_p.Q1158Q|SCN5A_ENST00000449557.2_Silent_p.Q1105Q|SCN5A_ENST00000451551.2_Silent_p.Q1105Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1159					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTTGACATCCTGGCCGAGGT	0.622000													6	19					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152345844	152345844	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:152345844G>A	ENST00000359321.1	-	3	811	c.726C>T	c.(724-726)tcC>tcT	p.S242S	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	242					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CATCTTGTTTGGAGAAAAACA	0.373000								Homologous recombination					28	160					0	0	1	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													3	46					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31759515	31759515	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31759515C>T	ENST00000375663.3	-	8	1413		c.e8-1		VARS_ENST00000444930.2_Splice_Site	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase						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)	CATTAGGACGCTGATGGTGGA	0.592000													23	153					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939081	55939081	+	Silent	SNP	A	A	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:55939081A>T	ENST00000244728.5	-	20	2311	c.1914T>A	c.(1912-1914)ggT>ggA	p.G638G	COL21A1_ENST00000370808.2_Silent_p.G38G|COL21A1_ENST00000370819.1_Silent_p.G635G|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Silent_p.G638G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	638	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCCCATTAAACCCTACAATT	0.323000													7	53					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159161803	159161803	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159161803G>A	ENST00000368125.4	+	2	323	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CADM3_ENST00000368124.4_Missense_Mutation_p.E90K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	56	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GAAAGATCACGAGGACTCATC	0.507000													8	46					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595490	39595490	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:39595490C>T	ENST00000246646.3	-	3	696	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	233	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGCTGCTCCTCCTTCAGGGAC	0.667000													12	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538283	82538283	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82538283C>T	ENST00000423517.2	-	8	13684	c.13347G>A	c.(13345-13347)agG>agA	p.R4449R	PCLO_ENST00000333891.8_Silent_p.R4449R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4380	PDZ.				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						AACGAGACTCCCTGGGTTTAT	0.448000													3	45					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607401	31607401	+	Missense_Mutation	SNP	C	C	T	rs150536106		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:31607401C>T	ENST00000170150.3	+	11	1120	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	309						extracellular region	lipid binding	p.P309S(1)									CCGCCAGTTTCCCGAGCCCAT	0.667000													7	36					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503514	51503514	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51503514C>T	ENST00000600767.1	-	5	720	c.230_splice	c.e5-1	p.P77_splice	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Splice_Site_p.P77_splice|KLK8_ENST00000391806.2_Splice_Site_p.P122_splice|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTGTGTATTTCCTGTAATGGT	0.557000													40	142					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711728	140711728	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140711728G>A	ENST00000517417.1	+	1	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E493K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537000													27	139					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266996	16266996	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:16266996G>A	ENST00000343518.6	-	9	1504	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	485										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCCTTGGTGGAATTAATCCA	0.438000													14	266					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118951815	118951815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:118951815C>T	ENST00000300793.6	+	16	2491	c.2449C>T	c.(2449-2451)Caa>Taa	p.Q817*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	818					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TAAGATTTTCCAAAAGACCAA	0.502000													63	261					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427525	119427525	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:119427525G>A	ENST00000369429.3	-	8	1648	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	TBX15_ENST00000207157.3_Missense_Mutation_p.P441S			Q96SF7	TBX15_HUMAN	T-box 15	547						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCGTTGGAAGGAGAAGAACAG	0.522000													13	32					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	68962352	68962352	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:68962352G>A	ENST00000295381.3	+	1	440	c.21G>A	c.(19-21)agG>agA	p.R7R	ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Silent_p.R7R|ARHGAP25_ENST00000467265.1_Silent_p.R7R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	7					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AATTGCCAAGGAACTGGGATT	0.443000													19	122					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874032	23874032	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:23874032C>T	ENST00000405093.3	-	7	601		c.e7-1		MYH6_ENST00000356287.3_Splice_Site	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGATTCTCCCCTGGGGGCCAC	0.567000													21	74					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876608	148876608	+	Silent	SNP	C	C	T	rs143481615		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148876608C>T	ENST00000420008.2	+	6	1919	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	ZNF398_ENST00000483892.1_Silent_p.F377F|ZNF398_ENST00000475153.1_Silent_p.F548F|ZNF398_ENST00000540950.1_Silent_p.F553F|ZNF398_ENST00000335901.4_Silent_p.F377F|ZNF398_ENST00000491174.1_Silent_p.F377F|ZNF398_ENST00000426851.2_Silent_p.F377F	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	548					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCAAGAGCTTCATCCGCAAGC	0.602000													15	167					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724651	38724651	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:38724651G>A	ENST00000342213.2	-	1	923	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						integral to membrane	sugar binding	p.R193C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGGGCGCGCGATAGCTCAAG	0.647000													19	70					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375235	113375235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:113375235G>A	ENST00000316407.4	-	7	5704	c.5294C>T	c.(5293-5295)tCa>tTa	p.S1765L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1765L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1765					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCGCAATGATGATACAGGGTT	0.428000													37	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089119	9089119	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9089119G>A	ENST00000397910.4	-	1	2899	c.2696C>T	c.(2695-2697)cCc>cTc	p.P899L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	899	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						GTCCATGGTGGGGAATACTGG	0.512000													6	13					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198902	17198902	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:17198902G>T	ENST00000180173.5	-	6	736	c.702C>A	c.(700-702)gaC>gaA	p.D234E	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.D234E	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	234	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATAAACGAAGTCACTTCCTG	0.562000													11	63					9.31168e-06	9.37725e-06	1	1	0
ROR2	4920	broad.mit.edu	37	9	94493428	94493428	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:94493428C>T	ENST00000375708.3	-	7	1145	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ROR2_ENST00000375715.1_Missense_Mutation_p.C176Y|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	316	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCGTTATAGCACTGATGGTC	0.532000													27	101					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969382	47969382	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47969382G>A	ENST00000236877.6	-	2	674	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	93					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGCCGCCATGAAACGGTCGG	0.582000													20	103					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13217513	13217513	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:13217513C>T	ENST00000378694.1	+	5	671	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MCM10_ENST00000484800.2_Missense_Mutation_p.P200L|MCM10_ENST00000378714.3_Missense_Mutation_p.P199L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	200					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTTCTAGATCCCAAAAGCTCA	0.408000													18	61					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196829	101196829	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:101196829T>C	ENST00000294728.2	+	6	1381	c.1280T>C	c.(1279-1281)gTt>gCt	p.V427A	VCAM1_ENST00000347652.2_Missense_Mutation_p.V335A|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.V365A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	427	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTGCAAGGTTCCTAGCGTG	0.463000													8	45					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912289	131912289	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131912289C>T	ENST00000359827.3	-	7	2765	c.1803G>A	c.(1801-1803)atG>atA	p.M601I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M601I			Q9HCM2	PLXA4_HUMAN	plexin A4	601						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						CCAGCCCATCCATCTCTGACA	0.607000													9	108					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919219	142919219	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142919219C>T	ENST00000595842.1	-	1	141	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TAS2R40_ENST00000408947.3_Silent_p.F16F																							TATCCAAGTTCAAGGTCACCT	0.512000													10	102					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115338440	115338440	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:115338440G>A	ENST00000351270.3	+	7	719	c.623G>A	c.(622-624)aGg>aAg	p.R208K	HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000541666.1_Missense_Mutation_p.R208K|HABP2_ENST00000542051.1_Missense_Mutation_p.R182K	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	208	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AAAATGAATAGGACAGTCAAC	0.493000													19	85					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:28895678C>T	ENST00000282397.4	-	23	3347	c.3096G>A	c.(3094-3096)gaG>gaA	p.E1032E	FLT1_ENST00000543394.1_Silent_p.E55E|FLT1_ENST00000540678.1_Silent_p.E250E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1032	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373000													7	64					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430618	2430618	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2430618G>A	ENST00000449969.1	+	19	2610	c.2449G>A	c.(2449-2451)Ggg>Agg	p.G817R	PLCH2_ENST00000419816.2_Missense_Mutation_p.G844R|PLCH2_ENST00000378486.3_Missense_Mutation_p.G844R|PLCH2_ENST00000378488.3_Missense_Mutation_p.G808R|PLCH2_ENST00000288766.5_Missense_Mutation_p.G132R|PLCH2_ENST00000378483.2_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	844	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGATCCCATCGGGCGTGACTT	0.657000													7	49					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503132	149503132	+	RNA	SNP	C	C	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149503132C>G	ENST00000378016.2	+	0	8636							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTGCAACACGCAGCCCTGC	0.632000													11	92					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41850282	41850282	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41850282C>T	ENST00000196371.5	-	5	575		c.e5-1			NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CAAGTGTGCCCTGCAAGTGAG	0.502000													3	34					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472017	47472017	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:47472017C>T	ENST00000266581.4	-	2	1235	c.769G>A	c.(769-771)Gat>Aat	p.D257N	AMIGO2_ENST00000429635.1_Missense_Mutation_p.D257N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.D257N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.D257N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	257	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGGTGTAATCGTTCTTAAAA	0.473000													13	52					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46765767	46765767	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:46765767G>A	ENST00000529230.1	-	44	5951	c.5905C>T	c.(5905-5907)Cct>Tct	p.P1969S	CKAP5_ENST00000354558.3_Missense_Mutation_p.P1909S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1909S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1976S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1969					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCGACAGTAGGAACTGCTGGT	0.517000													23	66					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130791677	130791677	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:130791677G>A	ENST00000509018.1	-	20	3098	c.2893C>T	c.(2893-2895)Ctc>Ttc	p.L965F	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L965F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L680F|FNIP1_ENST00000514667.1_Missense_Mutation_p.L1015F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L965F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L965F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L970F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	965	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCCTCTGAGTCTTGCTACA	0.398000													7	50					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056508	28056508	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:28056508G>A	ENST00000377325.1	+	4	1274	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	240					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGGGAAAAAGAATCAGGGGA	0.428000													24	114					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5023179	5023179	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:5023179C>T	ENST00000256495.3	+	4	964	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	121						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AATCATTGCCCTGCAGAGTGG	0.438000													68	439					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38997006	38997006	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38997006C>T	ENST00000355481.4	+	55	8736	c.8605C>T	c.(8605-8607)Cgg>Tgg	p.R2869W	RYR1_ENST00000359596.3_Missense_Mutation_p.R2869W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2869W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2869	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCCTGTCCCGGGAGCTGCA	0.587000													15	96					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627396	29627396	+	Missense_Mutation	SNP	G	G	A	rs139424758	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29627396G>A	ENST00000376894.4	+	2	507	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Missense_Mutation_p.R130Q|MOG_ENST00000494692.1_Missense_Mutation_p.R130Q|MOG_ENST00000431798.2_Missense_Mutation_p.R130Q|MOG_ENST00000416766.2_Missense_Mutation_p.R130Q|MOG_ENST00000396701.2_Missense_Mutation_p.R130Q|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.R130Q|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.R130Q|MOG_ENST00000376898.3_Missense_Mutation_p.R130Q|MOG_ENST00000376902.3_Missense_Mutation_p.R130Q|MOG_ENST00000376917.3_Missense_Mutation_p.R130Q			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	130	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGCTTCTTCCGAGATCATTCT	0.448000													10	38					0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117158139	117158139	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117158139A>T	ENST00000261318.3	-	3	542	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	C12orf49_ENST00000536380.1_Missense_Mutation_p.Y98N	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	128	Cys-rich.					extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CAGTACTCATAGGCGCTGCAG	0.532000													19	62					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222560	100222560	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:100222560C>T	ENST00000355295.4	+	7	1251	c.956C>T	c.(955-957)tCc>tTc	p.S319F	TDRD7_ENST00000422139.2_Missense_Mutation_p.S245F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	319	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTACCTCTATCCCCACTACCT	0.453000													7	40					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27731112	27731112	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:27731112C>T	ENST00000264717.2	+	16	1479	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	GCKR_ENST00000424318.2_Silent_p.F282F	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	472	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AAGGGAACTTCATCCAGGTAT	0.478000													16	70					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823276	38823276	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:38823276C>T	ENST00000303592.3	-	2	1120	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	288					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCCAGGATGACCACGATCTCA	0.627000													9	52					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555703	44555703	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44555703T>C	ENST00000289547.4	-	18	3749	c.3694A>G	c.(3694-3696)Acc>Gcc	p.T1232A	NPC1L1_ENST00000381160.3_Missense_Mutation_p.T1205A|NPC1L1_ENST00000546276.1_Missense_Mutation_p.T1159A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1232					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATAGAGATGGTGGCCTCTTTG	0.627000													3	21					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111427	142111427	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142111427C>T	ENST00000390378.1	-	0	308																											GGGCCGAGTCCCCTAGCAACA	0.488000													13	123					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949939	38949939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38949939G>A	ENST00000355481.4	+	19	2452	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E	RYR1_ENST00000359596.3_Missense_Mutation_p.G774E|RYR1_ENST00000360985.3_Missense_Mutation_p.G774E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	774	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCTGGACGGGCTCTTCTTC	0.602000													10	53					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115879	54115879	+	Missense_Mutation	SNP	C	C	T	rs150332172		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54115879C>T	ENST00000548263.1	-	5	587	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R180Q|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.R180Q|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R147Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	180	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCTGCACTCGGCTCCTCAG	0.607000													26	106					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52271984	52271984	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52271984C>T	ENST00000598776.1	+	2	845	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	FPR2_ENST00000340023.6_Silent_p.L25L|FPR2_ENST00000598953.1_Silent_p.L25L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	25					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						CTACACTGTTCTGCGGATCCT	0.532000													17	99					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24921643G>A	ENST00000329468.2	+	1	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCTGGAGGGAAATGTCTAC	0.612000													8	24					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141072507G>A	ENST00000389484.3	-	83	13773	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(1)		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)		TATTTACCTAGAACTGATGGT	0.353000										TSP Lung(27;0.18)			10	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285639	152285639	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152285639C>T	ENST00000368799.1	-	3	1758	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	575	Ser-rich.				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)			CCTGATTGTTCCTCATTTCGT	0.557000									Ichthyosis				75	430					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341279	39341279	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:39341279C>T	ENST00000263408.4	-	4	540	c.445G>A	c.(445-447)Gag>Aag	p.E149K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	149	MACPF.				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)			AGCTCAGACTCTTCTACCACT	0.463000													29	108					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121890	103121890	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:103121890C>T	ENST00000295269.4	+	4	1615	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	386					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCCTTCATCTGCTTCACCC	0.527000													12	96					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237806680	237806680	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:237806680C>T	ENST00000366574.2	+	48	7592	c.7275C>T	c.(7273-7275)tcC>tcT	p.S2425S	RYR2_ENST00000542537.1_Silent_p.S2409S|RYR2_ENST00000360064.6_Silent_p.S2423S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2425	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTGAGATCCCTCATTCCCC	0.423000													12	109					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114598	120114598	+	Missense_Mutation	SNP	G	G	A	rs142250367		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:120114598G>A	ENST00000332843.2	+	4	345	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	102	Collagen-like.					collagen|cytoplasm	mannose binding	p.E102K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGACAAAGGGGAAAAAGGTTT	0.338000													6	34					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68591930	68591930	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:68591930G>A	ENST00000262348.4	-	12	1858	c.1605C>T	c.(1603-1605)acC>acT	p.T535T	WLS_ENST00000370976.3_Silent_p.T444T|WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Intron|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	535					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CCTCCTTGCGGGTCAACTTGT	0.602000													5	53					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144909	56144909	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:56144909G>A	ENST00000394555.2	-	4	843	c.408C>T	c.(406-408)aaC>aaT	p.N136N	EFEMP1_ENST00000394554.1_Silent_p.N136N|EFEMP1_ENST00000355426.3_Silent_p.N136N|EFEMP1_ENST00000424836.2_Silent_p.N78N	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	136					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGACAAAGTTATTTCGGC	0.592000													65	85					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99565827	99565827	+	Silent	SNP	C	C	T	rs150096066	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99565827C>T	ENST00000411734.1	-	3	560	c.555G>A	c.(553-555)gcG>gcA	p.A185A	AZGP1_ENST00000292401.4_Silent_p.A188A			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	188					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)					TCCGCAGAGTCGCAGGGCACT	0.552000													16	128					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88938715	88938715	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88938715G>A	ENST00000556564.1	-	15	3028	c.2744C>T	c.(2743-2745)aCa>aTa	p.T915I	PTPN21_ENST00000328736.3_Missense_Mutation_p.T915I	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	915	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGTCGTGCTGTTGAGCACTC	0.383000													6	53					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36438023	36438023	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36438023C>T	ENST00000373731.2	+	2	540	c.149C>T	c.(148-150)cCc>cTc	p.P50L	KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.P50L|KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	50						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CCTCTAGGTCCCAGGAATGAA	0.423000													22	95					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275963	54275963	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:54275963C>T	ENST00000354646.2	-	17	3256	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N	WNK3_ENST00000375169.3_Missense_Mutation_p.D940N|WNK3_ENST00000375159.2_Missense_Mutation_p.D940N	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	940					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAACCACATCCTTGTGTTCT	0.398000													30	57					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245782	167245782	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:167245782C>T	ENST00000308378.3	-	11	1679	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.K283K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	458										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						TGATTTTGTTCTTACTGGAGT	0.358000													10	41					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620463	70620463	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:70620463C>T	ENST00000310613.2	-	3	499	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACATTTTTCAATATCTCCA	0.333000													19	92					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87017736	87017736	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:87017736C>T	ENST00000409511.2	-	5	1148	c.118G>A	c.(118-120)Gag>Aag	p.E40K	CD8A_ENST00000352580.3_Missense_Mutation_p.E40K|CD8A_ENST00000283635.3_Missense_Mutation_p.E40K|CD8A_ENST00000409781.1_Missense_Mutation_p.E40K|CD8A_ENST00000456996.2_Missense_Mutation_p.E40K|CD8A_ENST00000538832.1_Missense_Mutation_p.E81K	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	40	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CACTTCAGCTCCACTGTCTCG	0.701000													33	49					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409485	56409485	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56409485C>T	ENST00000544374.1	-	1	462	c.434G>A	c.(433-435)gGg>gAg	p.G145E	OR5AP2_ENST00000302981.1_Missense_Mutation_p.G144E			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GCAAATTCTCCCAGACACGAG	0.493000													13	73					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030833	33030833	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33030833C>T	ENST00000340811.4	-	3	1089	c.981G>A	c.(979-981)ggG>ggA	p.G327G	PKP2_ENST00000070846.6_Silent_p.G327G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	327					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCCACTTCCCCCTGCGGCCG	0.617000													7	50					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468790	56468790	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:56468790C>T	ENST00000288221.6	-	2	501	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	82						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)		TAGCCCTTCCCAGAGTCATAG	0.512000													23	168					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997607	29997607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:29997607C>T	ENST00000308893.4	+	16	3057	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	TAOK2_ENST00000543033.1_Nonsense_Mutation_p.Q672*|TAOK2_ENST00000279394.3_Nonsense_Mutation_p.Q672*|TAOK2_ENST00000416441.2_Nonsense_Mutation_p.Q499*	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	672					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAAGCAGACCCAGAAGGACTT	0.647000													31	194					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22086769	22086769	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:22086769G>A	ENST00000261200.4	-	2	230	c.231C>T	c.(229-231)ttC>ttT	p.F77F	ABCC9_ENST00000261201.4_Silent_p.F77F|ABCC9_ENST00000326684.4_Silent_p.F77F|ABCC9_ENST00000345162.2_Silent_p.F77F|ABCC9_ENST00000538350.1_Silent_p.F77F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	77					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)	ACAGGAGAGCGAATGTAAGAA	0.428000													9	68					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55916539	55916539	+	Splice_Site	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:55916539C>T	ENST00000389286.4	-	18	3141		c.e18+1			NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin						multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTCAGTACCTTTGCATCA	0.418000													20	90					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435088	10435088	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10435088C>T	ENST00000245503.5	-	22	2943	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.K853K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	853					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCCATCTCCTTCTCAGTTT	0.433000													17	71					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831359	131831359	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131831359C>T	ENST00000359827.3	-	28	5927	c.4965G>A	c.(4963-4965)gtG>gtA	p.V1655V	PLXNA4_ENST00000321063.4_Silent_p.V1655V			Q9HCM2	PLXA4_HUMAN	plexin A4	1655						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						CGTGGTTCTTCACTAGGTGCC	0.572000													30	400					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70598008	70598008	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:70598008G>A	ENST00000333538.5	+	1	854	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	74						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGGACATCGTGTACCGGCA	0.731000													4	14					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527773	43527773	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:43527773G>A	ENST00000220420.5	-	10	1615	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TGM5_ENST00000349114.4_Silent_p.F454F	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	536					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGAGGTCCTTGAACTGGGAGG	0.557000													15	71					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848175	42848175	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:42848175T>G	ENST00000334370.4	+	10	2373	c.1738T>G	c.(1738-1740)Tgc>Ggc	p.C580G	MEGF8_ENST00000251268.6_Missense_Mutation_p.C580G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	580	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGCAGTTGGTGCCAAGGAGC	0.632000													17	79					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586199	82586199	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82586199G>A	ENST00000423517.2	-	5	4407	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1357L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1288					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						CAGACCTTGGGGGCTTTTAGG	0.408000													7	29					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598096	93598096	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:93598096C>T	ENST00000394236.3	-	13	1871	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	PROS1_ENST00000407433.1_Missense_Mutation_p.G388S	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	519	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACACCAGTGCCCGTGGATGGA	0.428000													22	107					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916638	70916638	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70916638C>T	ENST00000322773.4	+	50	3359	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L	COL19A1_ENST00000393344.1_Missense_Mutation_p.P708L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1086	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGAGGTGAACCTGGAATTGGG	0.448000													3	31					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031959	10031959	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:10031959C>T	ENST00000396573.2	-	4	1173	c.864G>A	c.(862-864)ctG>ctA	p.L288L	GRIN2A_ENST00000330684.3_Silent_p.L288L|GRIN2A_ENST00000396575.2_Silent_p.L288L|GRIN2A_ENST00000535259.1_Silent_p.L131L|GRIN2A_ENST00000404927.2_Silent_p.L288L|GRIN2A_ENST00000562109.1_Silent_p.L288L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	288					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)	CTCTCGCCTCCAGGCTGTAGT	0.562000													5	35					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101569906	101569906	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:101569906G>A	ENST00000370449.4	+	14	1944	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	611						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTTTCCACAGAGCGGCTAGA	0.433000													11	46					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369299	86369299	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:86369299C>T	ENST00000400286.2	-	2	1943	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	449						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGCAGTATTTCCTTAATGGCA	0.353000													13	26					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	434845	434845	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:434845G>A	ENST00000264554.6	-	8	973	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	325	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCAGGCCGACTCCTCCGG	0.662000													21	71					0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													23	262					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152354	133152354	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:133152354G>A	ENST00000388996.4	-	11	1957	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P393S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P513S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	513					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTCAGGGTGGGGATCATGTCT	0.627000													25	102					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50358795	50358795	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:50358795C>T	ENST00000293599.6	+	4	781	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	211					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TAGGGCCCATCGTGGGGGCGG	0.612000													16	146					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575760	142575760	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142575760G>A	ENST00000359396.3	-	2	393	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	50					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGCTAGAAGGAGAGGAGAC	0.488000													14	56					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162465	33162465	+	RNA	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:33162465G>A	ENST00000510327.1	-	0	346																											CCTGAGGTTGGACGTGGGGGA	0.522000													6	58					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9590140	9590140	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:9590140G>A	ENST00000570827.2	+	8	1408	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	USP43_ENST00000575346.1_3'UTR|USP43_ENST00000285199.6_Missense_Mutation_p.E423K|USP43_ENST00000570475.1_Missense_Mutation_p.E423K			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	423					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGATAAGGGAAGACAGAGC	0.522000													6	31					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166202	140166202	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140166202C>T	ENST00000504120.2	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA1_ENST00000394633.3_Silent_p.I109I|PCDHA1_ENST00000378133.3_Silent_p.I109I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTTGATCGCCGACAGGC	0.498000													25	150					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394693	86394693	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:86394693G>A	ENST00000361669.2	+	2	1331	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	GRM3_ENST00000394720.2_Missense_Mutation_p.E76K|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E78K|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	78					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)	TGCTATTGATGAAATCAACAA	0.423000													16	107					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38092070	38092070	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:38092070C>T	ENST00000397166.2	+	3	904	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	DDHD2_ENST00000520272.2_Missense_Mutation_p.P127S	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	127					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TAAGTATGTTCCCTACTCGGA	0.398000													34	117					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142224084	142224084	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142224084C>T	ENST00000390367.3	-	0	99																											AATCTTATATCTGGGGGACTG	0.448000													4	32					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88767428	88767428	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:88767428G>A	ENST00000237201.1	+	3	481	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	122						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AACAGATTGTGGCTGTGAGTT	0.448000													12	63					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39801100	39801100	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:39801100C>T	ENST00000373272.2	+	26	3350	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.S982F|PLCG1_ENST00000244007.3_Missense_Mutation_p.S982F	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	982	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACATGTCATCCTTCCCGGAA	0.547000													16	46					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175194	51175194	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:51175194C>T	ENST00000440970.1	-	2	1079	c.648G>A	c.(646-648)gtG>gtA	p.V216V	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.V313V|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	313					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTAGCTGTTTCACACCACTAA	0.537000													30	122					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027078	160027078	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:160027078C>T	ENST00000263635.6	+	10	1350	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	TANC1_ENST00000454300.1_Silent_p.P265P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	371						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGTTGAAACCCTTGTTGTTTG	0.353000													10	108					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222231	64222231	+	Missense_Mutation	SNP	G	G	A	rs55645281		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:64222231G>A	ENST00000205948.6	-	3	290	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	85	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCAGCAAAAGGACATACTCTG	0.318000													12	52					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8456500	8456500	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:8456500G>A	ENST00000389737.4	+	6	1163	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	RP11-689P11.3_ENST00000515186.1_RNA|TRMT44_ENST00000513449.2_Missense_Mutation_p.R147K	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GTCCGAAGAAGAAAAATCTGG	0.398000													7	88					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806295	97806295	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97806295G>A	ENST00000358642.2	+	1	279	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AGACTGCAATGATATCCCTAG	0.438000													48	194					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:71570920G>A	ENST00000338482.5	+	3	683	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.E114K|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.E114K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	114					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000													22	90					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97619322	97619322	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97619322C>T	ENST00000182096.4	+	12	2217	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AATGAACCTCCGCATTTGGTA	0.274000													3	11					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278996	47278996	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47278996G>A	ENST00000542575.2	-	8	2025	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	SLC1A5_ENST00000412532.2_Missense_Mutation_p.S238F|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.S290F|SLC1A5_ENST00000434726.2_Missense_Mutation_p.S264F	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	466					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GACGGTACAGGACCGGTCGCT	0.567000													4	54					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860892	38860892	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38860892C>T	ENST00000409235.3	+	28	3322	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	CATSPERG_ENST00000410018.1_Silent_p.I1029I|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1069					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCTTTTCATCATCATGGTGA	0.577000													8	46					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	399129	399129	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:399129G>A	ENST00000331563.2	+	5	1282	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	402					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGAGGAGAACGGGATCT	0.592000													3	37					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74360528	74360528	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:74360528C>T	ENST00000555044.1	+	3	256	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S21F|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.S21F|ZNF410_ENST00000442160.3_Missense_Mutation_p.S21F	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	21					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)		CAGAATACGTCCATCCCATTG	0.438000													20	71					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042717	112042717	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:112042717G>A	ENST00000241356.4	-	2	1217	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	271					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GTTGGCATGGGACAGCAGGAT	0.438000													5	32					0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34991054	34991054	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:34991054C>T	ENST00000590071.2	+	8	1510	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	WTIP_ENST00000270288.6_Silent_p.S615S	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCAGCTGAGCGGGGAGGAGG	0.677000													3	57					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2614051	2614051	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:2614051T>C	ENST00000399655.1	+	8	1422	c.1157T>C	c.(1156-1158)gTt>gCt	p.V386A	CACNA1C_ENST00000327702.7_Missense_Mutation_p.V386A|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V386A|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V386A|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V386A|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V386A|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V386A|CACNA1C_ENST00000399617.1_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	386					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCTATTTTGTTACACTAATC	0.458000													7	36					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520869	129520869	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:129520869G>A	ENST00000305031.4	+	3	2392	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	678						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGGGTACCAGAACAAGTACC	0.443000													11	29					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406926	47406926	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47406926G>A	ENST00000310638.4	-	1	211	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.F60F|CYP4A11_ENST00000371905.1_Silent_p.F60F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	60					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGATGTGCCCGAAGAGCCAGT	0.592000													12	66					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14813983	14813983	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:14813983C>T	ENST00000261170.3	-	11	1432	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	432					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGCAATCATCAGGATCTGAG	0.512000													16	81					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059785	9059785	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9059785C>T	ENST00000397910.4	-	3	27864	c.27661G>A	c.(27661-27663)Gag>Aag	p.E9221K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9223	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						TCCAGTTTCTCTGTATCTGTA	0.468000													7	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077118	9077118	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9077118G>A	ENST00000397910.4	-	3	10531	c.10328C>T	c.(10327-10329)tCt>tTt	p.S3443F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3444	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						GACATCAGGAGATGCACCAAG	0.478000													13	52					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864540	30864540	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:30864540C>T	ENST00000403066.1	-	6	484	c.201G>A	c.(199-201)agG>agA	p.R67R	SEC14L3_ENST00000401751.1_Silent_p.R67R|SEC14L3_ENST00000540910.1_Silent_p.R49R|SEC14L3_ENST00000539629.1_Silent_p.R67R|SEC14L3_ENST00000215812.4_Silent_p.R126R|SEC14L3_ENST00000415957.2_Silent_p.R67R|SEC14L3_ENST00000402286.1_Silent_p.R49R			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	126						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCTCACAGTCCCTCATCTTGG	0.612000													26	122					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123892183	123892183	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:123892183C>T	ENST00000369005.1	+	6	5973	c.5633C>T	c.(5632-5634)aCc>aTc	p.T1878I	TACC2_ENST00000515603.1_Missense_Mutation_p.T1878I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.T1927I|TACC2_ENST00000358010.1_Missense_Mutation_p.T69I|TACC2_ENST00000513429.1_Missense_Mutation_p.T69I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.T1878I|TACC2_ENST00000453444.2_Missense_Mutation_p.T1927I|TACC2_ENST00000493951.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1878						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAAGCCCAACCTTAGCTGCC	0.557000													27	102					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906603	38906603	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:38906603G>A	ENST00000359357.3	+	77	11449	c.11195G>A	c.(11194-11196)aGa>aAa	p.R3732K	DNAH8_ENST00000449981.2_Missense_Mutation_p.R3949K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3696K|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCAAAAGAGAATTACAAAT	0.348000													6	29					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136186	156136186	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:156136186C>T	ENST00000329476.3	+	2	1584	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	NPY2R_ENST00000506608.1_Silent_p.V365V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	365					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACCTGGAGGTCAGAAAGAACA	0.488000													7	49					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197691	142197691	+	RNA	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142197691C>T	ENST00000471935.1	-	0	286																											AACTGTGAATCATCCACTACA	0.493000													12	121					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56373515	56373515	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:56373515C>T	ENST00000370754.5	-	75	18957	c.18958G>A	c.(18958-18960)Gag>Aag	p.E6320K	DST_ENST00000361203.3_Missense_Mutation_p.E6031K|DST_ENST00000370769.4_Missense_Mutation_p.E6142K|DST_ENST00000244364.6_Missense_Mutation_p.E3728K|DST_ENST00000446842.2_Missense_Mutation_p.E5816K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E4054K|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3945K			Q03001	DYST_HUMAN	dystonin	6140					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTATGTTCTCCCAAATGAAA	0.438000													4	26					0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713577	138713577	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:138713577G>A	ENST00000275766.1	-	3	642	c.631C>T	c.(631-633)Cat>Tat	p.H211Y		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	211										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						ATAAGCTGATGGGACCGTTTG	0.418000													6	40					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116153160	116153160	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:116153160G>A	ENST00000409155.3	-	5	511	c.315C>T	c.(313-315)atC>atT	p.I105I	ALAD_ENST00000277315.5_Silent_p.I88I	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	105					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TCAACAGATGGATTGCCTCAA	0.587000													5	52					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561363	69561363	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:69561363T>C	ENST00000261858.2	+	5	1862	c.1634T>C	c.(1633-1635)cTt>cCt	p.L545P	GLCE_ENST00000559420.2_Missense_Mutation_p.L481P	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	545					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGGAATCTCTTAAAGCCATG	0.463000													19	80					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77575078	77575078	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:77575078A>G	ENST00000377453.3	+	4	2490	c.1198A>G	c.(1198-1200)Aga>Gga	p.R400G		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	351					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTTACCTATCAGAAACAAAAC	0.303000													4	28					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881765	108881765	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:108881765G>A	ENST00000329106.2	+	7	873	c.873G>A	c.(871-873)aaG>aaA	p.K291K		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	291						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTACCAGAAGAAGATGGCAG	0.453000													10	66					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141083389	141083389	+	Silent	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141083389G>A	ENST00000389484.3	-	80	13253	c.12282C>T	c.(12280-12282)atC>atT	p.I4094I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4094					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)		CACTGCCAATGATGGAGAGCT	0.383000										TSP Lung(27;0.18)			13	28					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23721867	23721867	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:23721867G>A	ENST00000256797.4	-	3	515	c.347C>T	c.(346-348)cCc>cTc	p.P116L	ERN2_ENST00000457008.2_Missense_Mutation_p.P68L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	68					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTCGATGACGGGATCTGCAGG	0.507000													53	211					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183001	165183001	+	Silent	SNP	C	C	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:165183001C>T	ENST00000342310.3	-	5	928	c.546G>A	c.(544-546)ggG>ggA	p.G182G	LMX1A_ENST00000367893.4_Silent_p.G182G|LMX1A_ENST00000294816.2_Silent_p.G182G	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGTTCCTTTCCCTGCCCCAT	0.493000													16	113					0	0	1	0	0
MTFR2	113115	broad.mit.edu	37	6	136562768	136562768	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136562768G>A	ENST00000420702.1	-	5	717	c.328C>T	c.(328-330)Cct>Tct	p.P110S	MTFR2_ENST00000451457.2_Missense_Mutation_p.P110S	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		AGTCGCAAAGGATGAAAAATT	0.358000													5	49					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2560819_2560821delCAG	ENST00000288709.6	-	2	316_318	c.76_78delCTG	c.(76-78)del	p.L26del	MMEL1_ENST00000502556.1_In_Frame_Del_p.L35del|MMEL1_ENST00000378412.3_In_Frame_Del_p.L35del	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	35					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739													4	6	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100133469	100133469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:100133469delT	ENST00000395996.1	+	8	1113	c.1002delT	c.(1000-1002)tafs	p.Y334fs	VPS13B_ENST00000358544.2_Frame_Shift_Del_p.Y334fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Y334fs|VPS13B_ENST00000441350.2_Frame_Shift_Del_p.Y334fs|VPS13B_ENST00000355155.1_Frame_Shift_Del_p.Y334fs			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	334					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGAGTTATATTCACAGCAAG	0.403													8	38	---	---	---	---					
NDRG1	10397	broad.mit.edu	37	8	134296497	134296498	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:134296497_134296498delCT	ENST00000414097.2	-	2	924_925	c.57_58delAG	c.(55-60)aaggfs	p.KG19fs	NDRG1_ENST00000354944.5_Frame_Shift_Del_p.KG19fs|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Frame_Shift_Del_p.KG19fs|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000537882.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	19					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCACCTCCCCTTTCTCCACCA	0.550			T	ERG	prostate								25	69	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941100	96941100	+	RNA	DEL	A	A	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:96941100delA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						GACCAGCAAGAAAAAAAAAAT	0.378													5	9	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61547737	61547739	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:61547737_61547739delGAG	ENST00000278836.5	+	18	2476_2478	c.2380_2382delGAG	c.(2380-2382)del	p.E795del	MYRF_ENST00000265460.5_In_Frame_Del_p.E786del|MYRF_ENST00000327797.1_In_Frame_Del_p.RG476del|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_In_Frame_Del_p.E186del	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCTGCGCACAGAGGAGGACCTGG	0.611													7	75	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													5	9	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26647141	26647142	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:26647141_26647142insA	ENST00000381340.3	-	39	5730_5731	c.5314_5315insT	c.(5314-5316)agafs	p.R1772fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1772					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATGCCTTCTGAAAAAATTCTG	0.381													9	75	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68771348	68771350	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:68771348_68771350delGCT	ENST00000261769.5	+	1	221_223	c.30_32delGCT	c.(28-33)gcg>gc	p.AL10del	CDH1_ENST00000422392.2_In_Frame_Del_p.AL10del	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	10				A -> G (in Ref. 3; AAA61259).	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.L8fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCTCGGCGCTGCTGCTGCTG	0.764			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				2	4	---	---	---	---					
RPL38	6169	broad.mit.edu	37	17	72205441	72205442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72205441_72205442insC	ENST00000311111.6	+	4	311_312	c.180_181insC	c.(178-183)ctccccfs	p.LP60fs	RPL38_ENST00000533498.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000534490.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000584577.1_Frame_Shift_Ins_p.LP60fs|RPL38_ENST00000439590.2_Frame_Shift_Ins_p.LP60fs			P63173	RL38_HUMAN	ribosomal protein L38	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|pancreas(1)	2						AGCAGTCCCTGCCCCCCGGTGA	0.490													19	146	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11356550	11356551	+	Frame_Shift_Del	DEL	CG	CG	-	rs141338642	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11356550_11356551delCG	ENST00000294618.7	-	8	821_822	c.810_811delCG	c.(808-813)ttagfs	p.FE270fs		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	270					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATTTCAATCTCGAACCTACAAG	0.530													2	4	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													7	243	---	---	---	---					
CTB-147C22.9	0	broad.mit.edu	37	19	51478283	51478283	+	RNA	DEL	C	C	-	rs12151293		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51478283delC	ENST00000594512.1	+	0	297																											gggctggcggCGGGGAGCGGT	0.701													2	4	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:43221415_43221417delCTG	ENST00000422911.1	-	25	3681_3683	c.3580_3582delCAG	c.(3580-3582)del	p.Q1194del	PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del			P57071	PRD15_HUMAN	PR domain containing 15	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													9	156	---	---	---	---