Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEP1	7011	broad.mit.edu	37	14	20842626	20842626	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20842626G>A	uc001vxe.3	-	43	6473	c.6433C>T	c.(6433-6435)Ctg>Ttg	p.L2145L	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Silent_p.L1488L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L2037L|TEP1_uc010tlh.1_Silent_p.L483L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2145					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGATGACCCAGGAACTGACCA	0.577000														19			14		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568397	52568398	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:52568397_52568398GG>AA	uc010ydh.1	-	6	3197_3198	c.2737_2738CC>TT	c.(2737-2739)ccg>TTg	p.P913L	ZNF841_uc002pyl.1_Missense_Mutation_p.P797L	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AACATCTAACGGCCTTTCCACA	0.386000														21			7		0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2856249	2856249	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:2856249G>A	uc011mhh.2	-	9	1712	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	ARSE_uc011mhi.2_Silent_p.I338I|ARSE_uc004crc.4_Silent_p.I392I			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	392					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCAGCGGAAGATCCCGGGCA	0.627000														26			25		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416204	86416204	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:86416204A>T	uc003uid.3	+	2	2195	c.1096A>T	c.(1096-1098)Aaa>Taa	p.K366*	GRM3_uc010lef.3_Nonsense_Mutation_p.K364*|GRM3_uc010leg.3_Nonsense_Mutation_p.K238*|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	366					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)	CCTCCAGAACAAACGCAACCA	0.562000														51			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075372	9075372	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9075372T>A	uc002mkp.3	-	2	12278	c.12074A>T	c.(12073-12075)gAc>gTc	p.D4025V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4027	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						TGAGCTGGTGTCCATGTAAGG	0.468000														77			30		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866813	70866813	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:70866813C>T	uc002ezr.3	-	79	13985	c.13834G>A	c.(13834-13836)Gga>Aga	p.G4612R	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4613										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)				GGACTGCCTCCCTGGATGTAG	0.542000														37			7		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500436	102500436	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:102500436T>C	uc001yks.2	+	54	10701	c.10537T>C	c.(10537-10539)Ttc>Ctc	p.F3513L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3513					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCAGCTGCGTTCATTGCCTA	0.488000														136			50		0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56963954	56963954	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:56963954C>T	uc002lhy.3	-	2	646	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				ACTTCTGCTCCGCTGTCTGCT	0.498000														31			13		0	0	1	0	0
FAM20C	56975	broad.mit.edu	37	7	195722	195722	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:195722C>T	uc003sip.3	+	1	1005	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN	Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.	258						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCCAGAGGATCACCAGCGTGG	0.607000														48			10		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	372983	372983	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:372983G>A	uc001ifp.3	-	30	3977	c.3887C>T	c.(3886-3888)tCg>tTg	p.S1296L		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1296						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAACCGAACGAGGTGCTGAC	0.602000														28			7		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512410	167512410	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167512410G>A	uc003ffa.4	+	4	877	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SERPINI1_uc003ffb.4_Missense_Mutation_p.E227K	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	227					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						CTTTTTAGGGGAATTTAGTGA	0.398000														21			7		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169953057	169953057	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:169953057T>C	uc003fgs.2	+	1	379	c.141T>C	c.(139-141)ttT>ttC	p.F47F		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	47	OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCATCTCCTTTGAGGGCCTTT	0.363000														37			12		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29560217	29560217	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29560217C>G	uc002hgg.3	+	26	4077	c.3694C>G	c.(3694-3696)Cct>Gct	p.P1232A	NF1_uc002hgh.3_Missense_Mutation_p.P1232A|NF1_uc010csn.2_Missense_Mutation_p.P1092A|NF1_uc002hgi.1_Missense_Mutation_p.P265A	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1232					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)		CAATGTGGTTCCTTGTTCTCA	0.433000			"""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)				70			29		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170346514	170346515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:170346514_170346515CC>TT	uc003mba.3	+	10	1313_1314	c.1171_1172CC>TT	c.(1171-1173)cct>TTt	p.P391F	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	391					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCATCTGTTCCTTTTGTGAAA	0.391000			T	TRD@	ALL									100			20		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55972740	55972740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:55972740C>T	uc002adg.3	-	4	811	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	255	Ig-like 3.				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)		GCCATGCATTCCAAAACTACA	0.393000														150			58		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764183	83764183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:83764183C>T	uc003uhz.3	-	1	512	c.197G>A	c.(196-198)cGg>cAg	p.R66Q		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	66	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTACTCCGTTCCTCATC	0.383000														61			35		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577350	109577350	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109577350C>T	uc001tob.3	+	1	259	c.140C>T	c.(139-141)cCc>cTc	p.P47L	ACACB_uc001toc.3_Missense_Mutation_p.P47L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	47					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCCAGGAGCCCTTTCCAGCC	0.552000														74			21		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75277070	75277070	+	Silent	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:75277070T>G	uc001xqj.4	+	8	5299	c.5175T>G	c.(5173-5175)gtT>gtG	p.V1725V	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Silent_p.V208V	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				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)		ATCGTGGTGTTATTGACTATG	0.418000														81			35		0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43585097	43585097	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43585097G>A	uc002xmy.3	-	1	297	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	PABPC1L_uc002xmx.3_Intron	NM_006809	NP_006800	Q15785	TOM34_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 34 (TOMM34), nuclear gene encoding mitochondrial protein, mRNA.	53					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTGGAGTAGAGAACACTTTCT	0.468000														166			50		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262692	140262692	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140262692C>T	uc003lif.2	+	0	839	c.839C>T	c.(838-840)tCa>tTa	p.S280L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S280L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S280L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	295	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S280L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGTTTACTCATTTAGAAGG	0.383000														63			28		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57640197C>T	uc002qny.3	+	3	510	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_uc021vci.1_Nonsense_Mutation_p.Q52*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	52					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)		AAGAATTTTTCAGCTGAGCAA	0.338000														40			11		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772539	33772539	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33772539A>G	uc002hjk.1	-	0	491	c.161T>C	c.(160-162)tTa>tCa	p.L54S	SLFN13_uc010wch.1_Missense_Mutation_p.L54S|SLFN13_uc002hjl.2_Missense_Mutation_p.L54S|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	54						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCTGAGTTTAATAAAGCACA	0.468000														120			51		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721376	176721376	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:176721376T>G	uc003mfr.4	+	22	7145	c.7007T>G	c.(7006-7008)gTg>gGg	p.V2336G	NSD1_uc003mft.4_Missense_Mutation_p.V2067G|NSD1_uc011dfx.2_Missense_Mutation_p.V1984G|NSD1_uc021yip.1_Missense_Mutation_p.V160G	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2336	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCTCTCCAGTGACCAGCCCA	0.597000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				51			13		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50245272	50245272	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50245272C>T	uc002ppm.3	-	8	1378	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	456							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAACTGCGACCCCTGGCTGGG	0.642000														24			15		0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689178	49689178	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49689178G>A	uc001rtu.3	+	0	270	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	65	Head.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCCCCCGAGCGGGAGCGGGCG	0.716000														10			4		0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968723	62968723	+	RNA	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:62968723C>A	uc002jez.3	-	3		c.608G>T			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		CATTGTTATTCCCACAACACA	0.353000														76			34		1.45844e-13	1.48309e-13	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526324	150526324	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:150526324C>T	uc009wlw.3	+	4	1015	c.857C>T	c.(856-858)tCc>tTc	p.S286F	ADAMTSL4_uc001euw.3_Missense_Mutation_p.S286F|ADAMTSL4_uc001eux.3_Missense_Mutation_p.S286F|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S286F	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	286					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGGCCAAGTTCCCAGGGTTGG	0.667000														23			13		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288945	17288945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:17288945C>T	uc002zlv.3	-	1	117	c.19G>A	c.(19-21)Gag>Aag	p.E7K	XKR3_uc011agf.2_Missense_Mutation_p.E7K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	7						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	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)				TCATCCATCTCTTCAAACACT	0.393000														70			36		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082531	42082532	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:42082531_42082532GG>AA	uc002ore.4	+	1	1	c.-95_splice	c.e1-1		CEACAM21_uc002orc.1_Intron|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.							integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGGAAGGAAGGACAGCAGAGA	0.584000														12			5		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196696058	196696058	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196696058C>T	uc001gtj.4	+	13	2464	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	742	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACCCAACTTCCCCAGTGTGT	0.308000														98			36		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132657	37132658	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:37132657_37132658CC>TT	uc001wty.4	+	2	1286_1287	c.560_561CC>TT	c.(559-561)gcc>gTT	p.A187V	PAX9_uc010amq.3_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	187	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGTTCGGTGGCCATGCCGCGCA	0.688000														31			20		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691530	26691530	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26691530G>A	uc001bmg.1	-	3	625	c.507C>T	c.(505-507)ccC>ccT	p.P169P	ZNF683_uc001bmh.1_Silent_p.P169P|ZNF683_uc009vsj.1_Silent_p.P169P	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAAAGCCAAGGGGCTGGGGC	0.607000														12			3		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102316	168102316	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:168102316G>A	uc002udx.3	+	8	4503	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1297K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1250K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAGAATATGAAAATATCAA	0.378000														59			20		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536035	6536035	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:6536035C>T	uc001anp.1	-	3	834	c.336G>A	c.(334-336)gtG>gtA	p.V112V	PLEKHG5_uc001ann.1_Silent_p.V72V|PLEKHG5_uc001ano.1_Silent_p.V91V|PLEKHG5_uc001anq.1_Silent_p.V112V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Silent_p.V104V|PLEKHG5_uc001ank.1_Silent_p.V35V|PLEKHG5_uc009vmb.1_Silent_p.V35V|PLEKHG5_uc001anl.1_Silent_p.V35V|PLEKHG5_uc001anm.1_Silent_p.V35V	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCAAGTCCACTGCGGGGC	0.667000											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			19		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110325	73110325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:73110325C>T	uc003pga.3	+	33	5065	c.4988C>T	c.(4987-4989)tCa>tTa	p.S1663L	RIMS1_uc011dyb.2_Missense_Mutation_p.S1060L|RIMS1_uc003pgc.3_Missense_Mutation_p.S1078L|RIMS1_uc010kaq.3_Missense_Mutation_p.S983L|RIMS1_uc011dyc.2_Missense_Mutation_p.S788L|RIMS1_uc010kar.3_Missense_Mutation_p.S731L|RIMS1_uc011dyd.2_Missense_Mutation_p.S797L|RIMS1_uc003pge.3_Missense_Mutation_p.S703L|RIMS1_uc003pgf.3_Missense_Mutation_p.S663L|RIMS1_uc003pgi.3_Missense_Mutation_p.S479L|RIMS1_uc003pgg.3_Missense_Mutation_p.S559L|RIMS1_uc003pgh.3_Missense_Mutation_p.S530L|RIMS1_uc003pgd.3_Missense_Mutation_p.S729L|RIMS1_uc011dye.2_Missense_Mutation_p.S469L|RIMS1_uc011dyf.2_Missense_Mutation_p.S287L|RIMS1_uc011dyg.2_Missense_Mutation_p.S190L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1663					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCACCGTCCTCACTGGTGGAT	0.522000														87			6		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422929	95422929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:95422929G>A	uc001kiu.4	+	20	2650	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	838					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E838K(2)|p.A837A(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGGAGGAGCCGAAAAAGGTTA	0.428000														17			6		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030860	10030861	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:10030860_10030861GG>AA	uc002wno.3	+	7	2036	c.1643_splice	c.e7+1	p.G548_splice	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Splice_Site_p.G548_splice|ANKRD5_uc010gbz.3_Splice_Site_p.G359_splice	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	548							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CTTGAAAAAGGGTACGCGTCTC	0.401000														39			12		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208702	23208702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:23208702G>A	uc002dlm.1	+	5	1170	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	344					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAAGATGTGGGAACAGAGATT	0.443000														50			16		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38954573C>T	uc002hvh.1	-	2	670	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000														78			34		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33357265	33357265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:33357265C>T	uc001zhf.4	-	1	1385	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	FMN1_uc001zhg.2_Missense_Mutation_p.S462N	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	685	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCAGTCAGGCTGTGGTCAGG	0.453000														101			40		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687132	159687132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:159687132G>A	uc010kjv.3	+	20	5501	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1767						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)		AGCCTATCTGGATCCCATTCG	0.493000														19			10		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086302	109086302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:109086302C>T	uc002tec.3	+	5	671	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	GCC2_uc002ted.3_Nonsense_Mutation_p.Q72*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	173					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAAATTTCAGAACAACTC	0.343000														75			27		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673115	186673115	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:186673115G>A	uc002upl.3	+	16	19349	c.19349G>A	c.(19348-19350)aGg>aAg	p.R6450K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACTAATAAGGTTGCCAAGT	0.348000														19			7		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334151	108334151	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:108334151G>A	uc003ymn.3	-	3	1249	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	ANGPT1_uc011lhv.2_Missense_Mutation_p.L61F|ANGPT1_uc003ymo.3_Missense_Mutation_p.L261F|ANGPT1_uc003ymp.4_Missense_Mutation_p.L61F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	261					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGATTGACAAGGTTGTGGACT	0.378000														54			22		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858780	38858780	+	Silent	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:38858780A>T	uc002ywk.3	+	4	604	c.528A>T	c.(526-528)gcA>gcT	p.A176A	DYRK1A_uc002ywh.1_Silent_p.A138A|DYRK1A_uc002ywi.3_Silent_p.A176A|DYRK1A_uc002ywj.3_Silent_p.A167A|DYRK1A_uc002ywm.3_Silent_p.A176A|DYRK1A_uc011aei.2_5'Flank	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	176	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTGTAAAGGCATATGATCGTG	0.308000														55			22		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46681159	46681159	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:46681159A>C	uc003bhi.3	+	8	893	c.817A>C	c.(817-819)Acc>Ccc	p.T273P	TTC38_uc011aqx.2_Missense_Mutation_p.T215P	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	273							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GGCCGCGCTGACCATCTACGA	0.468000														53			14		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438589	37438589	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:37438589G>A	uc021ppc.1	+	9	1485	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ANKRD30A_uc001iza.1_Silent_p.K462K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	518						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCCTCCTAAGAAGCCATCTG	0.294000														91			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450752	41450752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:41450752G>A	uc002yyq.1	-	25	5025	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1525	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A1524D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGTCCTCTGAGCTGTGGTC	0.582000														20			9		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431454	140431454	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140431454C>T	uc003lik.1	+	0	476	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	133	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGTTTTCCTAAACAAGG	0.537000														31			15		0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13610664	13610664	+	Missense_Mutation	SNP	G	A	A	rs148869724	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:13610664G>A	uc002woi.3	-	1	179	c.62C>T	c.(61-63)tCg>tTg	p.S21L	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc010zrj.1_Non-coding_Transcript|TASP1_uc010zrk.2_Missense_Mutation_p.S21L	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	21					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TTTACCAGCCGAAACCTGAGA	0.468000														81			34		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														17			2		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73100385	73100385	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:73100385G>A	uc003pga.3	+	29	4529	c.4452G>A	c.(4450-4452)caG>caA	p.Q1484Q	RIMS1_uc011dyb.2_Silent_p.Q881Q|RIMS1_uc003pgc.3_Silent_p.Q933Q|RIMS1_uc010kaq.3_Silent_p.Q804Q|RIMS1_uc011dyc.2_Silent_p.Q609Q|RIMS1_uc010kar.3_Silent_p.Q552Q|RIMS1_uc011dyd.2_Silent_p.Q618Q|RIMS1_uc003pge.3_Silent_p.Q524Q|RIMS1_uc003pgf.3_Silent_p.Q484Q|RIMS1_uc003pgi.3_Silent_p.Q300Q|RIMS1_uc003pgg.3_Silent_p.Q380Q|RIMS1_uc003pgh.3_Silent_p.Q351Q|RIMS1_uc003pgd.3_Silent_p.Q550Q|RIMS1_uc011dye.2_Silent_p.Q290Q|RIMS1_uc011dyf.2_Silent_p.Q108Q|RIMS1_uc011dyg.2_Silent_p.Q11Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1484					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R1483fs*21(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGGTAAGGCAGCCGAGCCGAG	0.502000														28			9		0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37302206	37302206	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:37302206C>T	uc003zzq.3	+	2	805	c.632C>T	c.(631-633)tCc>tTc	p.S211F	ZCCHC7_uc011lqh.2_5'UTR|ZCCHC7_uc022bgu.1_Missense_Mutation_p.S211F|ZCCHC7_uc010mlt.3_Missense_Mutation_p.S210F	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	211							nucleic acid binding|zinc ion binding	p.W210*(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATAAACTGGTCCATCAGTGAC	0.274000														59			22		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977613	46977613	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:46977613G>A	uc003oyt.3	-	10	1757	c.1558C>T	c.(1558-1560)Cta>Tta	p.L520L	GPR110_uc011dwl.2_Silent_p.L208L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	520					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAAAAAAATAGGAAAACTTCA	0.418000														32			16		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637976	7637976	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7637976C>T	uc001qsz.3	-	10	2623	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	CD163_uc001qta.3_Missense_Mutation_p.R832K|CD163_uc009zfw.2_Missense_Mutation_p.R865K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	832	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGCCTCTCTGCTGGCTTC	0.483000														63			24		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047475	160047475	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:160047475G>A	uc003lym.1	-	14	3142	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	ATP10B_uc010jit.1_Silent_p.G82G|ATP10B_uc003lyn.3_Silent_p.G323G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	765					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGTCAAAGCCCAGGGTGC	0.582000														22			13		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47588883	47588883	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:47588883C>T	uc002xtx.4	+	10	1598	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	482					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGAGATTTTCCTGAACATTT	0.418000														44			11		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522284	144522285	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:144522284_144522285GG>AA	uc003yyd.2	-	10	2770_2771	c.2741_2742CC>TT	c.(2740-2742)tcc>tTT	p.S914F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	914					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGACTGCAGGGAGATGAAGGA	0.683000														7			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546864	9546864	+	Silent	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:9546864G>T	uc002wnl.2	-	5	1703	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	PAK7_uc002wnk.2_Silent_p.P386P|PAK7_uc002wnj.2_Silent_p.P386P|PAK7_uc010gby.1_Silent_p.P386P	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	386	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTGCAGGGAGGGGTGATGGT	0.587000														84			25		1.37878e-21	1.40483e-21	1	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55324687	55324687	+	Missense_Mutation	SNP	A	G	G	rs1135578		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55324687A>G	uc010yfl.2	+	5	841	c.808A>G	c.(808-810)Agc>Ggc	p.S270G	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Intron|KIR3DL2_uc021vbn.1_Intron|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	368	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAAAAAGTAAGCCTCACGAA	0.537000														41			10		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789222	111789222	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:111789222G>A	uc010yxk.1	+	14	1524	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	ACOXL_uc021vmm.1_Missense_Mutation_p.D287N|ACOXL_uc021vmn.1_Missense_Mutation_p.D257N	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	464					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAAGAAGGAGGATTTTTTCCA	0.453000														52			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024172	9024172	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9024172C>T	uc002mkp.3	-	17	37304	c.37100G>A	c.(37099-37101)aGa>aAa	p.R12367K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12369					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						CCCTGAGGTTCTGAGATCCAC	0.468000														15			8		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686094	108686094	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:108686094G>A	uc009zuw.3	-	2	837	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	CMKLR1_uc001tmw.3_Missense_Mutation_p.R216W|CMKLR1_uc001tmv.3_Missense_Mutation_p.R214W|CMKLR1_uc009zuv.3_Missense_Mutation_p.R216W|CMKLR1_uc021rdj.1_Missense_Mutation_p.R214W	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	216					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.H215L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCATGTGCCGGCTATACCCC	0.567000														36			16		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25492194	25492194	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:25492194C>T	uc011djw.2	+	14	1530	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	LRRC16A_uc010jpy.3_Missense_Mutation_p.R388C	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	388					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTCTTCTCCGTGGATGCCT	0.423000														38			14		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139838968	139838968	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:139838968G>A	uc003vvm.3	-	1	221	c.217C>T	c.(217-219)Cat>Tat	p.H73Y		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	73					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAACAGCATGATGTTCTTCT	0.358000														63			32		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379576	38379576	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:38379576G>A	uc003aun.1	-	1	494	c.216C>T	c.(214-216)atC>atT	p.I72I	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.I72I|SOX10_uc010gxj.3_Silent_p.I72I|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	72						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGGCCTCGCGGATGCACACGG	0.687000														11			4		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778105	43778105	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:43778105G>A	uc001ciu.3	+	11	1937	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	TIE1_uc010okd.2_Missense_Mutation_p.G587E|TIE1_uc010oke.2_Missense_Mutation_p.G542E|TIE1_uc009vwq.3_Missense_Mutation_p.G543E|TIE1_uc010okf.1_Missense_Mutation_p.G232E|TIE1_uc010okg.2_Missense_Mutation_p.G232E	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	587	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G587E(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGGGACGGGACACGGGGG	0.692000														28			13		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707801	70707801	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70707801G>A	uc003heo.3	-	7	909	c.796C>T	c.(796-798)Cac>Tac	p.H266Y		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	266					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACTGTAAAGTGATTTTTCCAG	0.323000														35			12		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:72967929C>T	uc003pga.3	+	16	2949	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_uc011dyb.2_Missense_Mutation_p.R583C|RIMS1_uc003pgc.3_Missense_Mutation_p.R584C|RIMS1_uc010kaq.3_Missense_Mutation_p.R431C|RIMS1_uc011dyc.2_Missense_Mutation_p.R432C|RIMS1_uc010kar.3_Missense_Mutation_p.R351C|RIMS1_uc011dyd.2_Missense_Mutation_p.R417C|RIMS1_uc003pge.3_Missense_Mutation_p.R175C|RIMS1_uc003pgf.3_Missense_Mutation_p.R174C|RIMS1_uc003pgi.3_Missense_Mutation_p.R174C|RIMS1_uc003pgg.3_Missense_Mutation_p.R175C|RIMS1_uc003pgh.3_Missense_Mutation_p.R174C|RIMS1_uc003pgd.3_Missense_Mutation_p.R175C|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R584C|RIMS1_uc010kas.1_Missense_Mutation_p.R417C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000														20			7		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834702	61834702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:61834702G>A	uc002yeh.3	-	3	884	c.590C>T	c.(589-591)tCc>tTc	p.S197F	YTHDF1_uc011aaq.2_Missense_Mutation_p.S147F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	197										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACGGCGGAGGAGCTGACGTC	0.602000														34			10		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692813	20692813	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20692813G>A	uc010tlc.2	+	0	945	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M315I(2)		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)		ACAAAGACATGAAAGATGCTC	0.393000														83			18		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008399	71008399	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:71008399G>A	uc001jpf.4	+	9	1618	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	HKDC1_uc010qje.2_Silent_p.L358L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	495					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCTGAGCTGGAGTATGGGC	0.662000														19			6		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57008860	57008860	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57008860G>A	uc001slq.1	-	2	868	c.674C>T	c.(673-675)tCa>tTa	p.S225L	BAZ2A_uc001slp.1_Missense_Mutation_p.S223L|BAZ2A_uc010sqr.1_Missense_Mutation_p.S225L|BAZ2A_uc009zow.1_Missense_Mutation_p.S193L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	225					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCCACAACTGAAGTCATCTC	0.512000														19			9		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783764	10783764	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:10783764C>T	uc001qys.2	-	4	852	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	111						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						GAGAGTTGCTCCCGCGGCACC	0.537000										HNSCC(73;0.22)				44			25		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314737	48314737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:48314737G>A	uc003toq.2	+	16	5498	c.5474G>A	c.(5473-5475)tGg>tAg	p.W1825*	ABCA13_uc010kyr.2_Nonsense_Mutation_p.W1328*|ABCA13_uc022acp.1_Nonsense_Mutation_p.W324*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1825					transport	integral to membrane	ATP binding|ATPase activity	p.R1824L(1)|p.R1824Q(1)		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						GTTTGGTGCTGGAATCACACA	0.383000														20			4		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152325478C>T	uc001ezw.4	-	2	4857	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000														262			171		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94852863	94852863	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:94852863G>A	uc003klb.3	-	20	2575	c.2278C>T	c.(2278-2280)Cac>Tac	p.H760Y		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	760							binding	p.L759L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTCCAAGGTGGAGGAGCTCA	0.353000														36			19		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029348	37029348	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:37029348A>G	uc004ddl.2	+	0	2917	c.2865A>G	c.(2863-2865)gaA>gaG	p.E955E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	955								p.E955*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GAAGTGATGAACCTTTGATTG	0.443000														85			77		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178532	214178532	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:214178532C>A	uc001hkh.3	+	2	2022	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	584			H -> R (in dbSNP:rs12121210).		aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTCACCCAATCACTTGAAAAA	0.443000														80			12		7.93312e-07	8.00994e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228433356	228433356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:228433356G>A	uc009xez.1	+	11	3768	c.3724G>A	c.(3724-3726)Ggc>Agc	p.G1242S	OBSCN_uc001hsn.3_Missense_Mutation_p.G1242S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1242	Ig-like 12.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CGAGGCTGGGGGCCAGAGAGT	0.512000														101			19		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018970	62018970	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:62018970C>T	uc002jds.1	-	23	4749	c.4672G>A	c.(4672-4674)Gag>Aag	p.E1558K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1558					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCGGGTTCTCCAGGTTGGGG	0.602000														26			12		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008291	120008291	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:120008291C>T	uc001pwz.3	-	0	573	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	150					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTAGCTGTTCCGCCGGGTCTC	0.642000														59			41		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	674722	674722	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:674722G>A	uc001lqq.1	-	9	2010	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.P350P	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	439	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	p.P439L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TGACCAACGCGGGAGGTGCCG	0.567000														41			31		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468147	61468147	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61468147T>A	uc002ljl.3	+	6	741	c.645T>A	c.(643-645)aaT>aaA	p.N215K	SERPINB7_uc002ljm.3_Missense_Mutation_p.N215K|SERPINB7_uc010xet.2_Missense_Mutation_p.N198K|SERPINB7_uc010dqg.3_Missense_Mutation_p.N215K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	215					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)				GGAAGTTCAATTTGTCTGTTA	0.413000														105			46		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888461	12888461	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12888461G>A	uc001auk.2	-	1	259	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	21								p.P20H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCGGCGGAAGGGCCAGG	0.607000														51			18		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36757056	36757056	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:36757056C>T	uc001cae.4	+	5	2051	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	THRAP3_uc001caf.4_Silent_p.S609S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	609					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S609S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTTTCGTTCCATTTTCCAGC	0.458000			T	USP6	aneurysmal bone cysts									59			30		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818256	32818256	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32818256G>A	uc003ocg.3	-	4	1424	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	TAP1_uc011dqi.2_Silent_p.S162S	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	423	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCACCTGGCTGGACTTTGCCA	0.532000														45			18		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604581	90604581	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90604581G>A	uc011eaa.2	+	0	394	c.394G>A	c.(394-396)Gat>Aat	p.D132N		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	132					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAAAGAATAGATAGGGAACT	0.473000														41			22		0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291766	56291766	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:56291766T>C	uc004dur.3	+	2	1181	c.235T>C	c.(235-237)Ttc>Ctc	p.F79L	KLF8_uc010nkg.2_Missense_Mutation_p.F74L|KLF8_uc011mop.2_Missense_Mutation_p.F79L|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GGCTAGTGATTTCAGCCTGCC	0.517000														11			5		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235165	73235165	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:73235165C>A	uc004aid.3	-	14	2164	c.1920G>T	c.(1918-1920)atG>atT	p.M640I	TRPM3_uc004ahu.3_Missense_Mutation_p.M470I|TRPM3_uc004ahv.3_Missense_Mutation_p.M442I|TRPM3_uc004ahw.3_Missense_Mutation_p.M512I|TRPM3_uc004ahx.3_Missense_Mutation_p.M499I|TRPM3_uc004ahy.3_Missense_Mutation_p.M502I|TRPM3_uc004ahz.3_Missense_Mutation_p.M489I|TRPM3_uc004aia.3_Missense_Mutation_p.M487I|TRPM3_uc004aib.3_Missense_Mutation_p.M477I|TRPM3_uc004aic.3_Missense_Mutation_p.M640I	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	665						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGCCCACACCATGAGCTCAT	0.552000														64			76		5.02462e-34	5.13293e-34	1	1	0
MYO1H	283446	broad.mit.edu	37	12	109865287	109865287	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109865287C>T	uc010sxn.1	+	17	1797	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AATTTGATGACTTCCTCATAA	0.473000														142			55		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021931	167021931	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:167021931T>A	uc003irh.2	+	20	3592	c.2945T>A	c.(2944-2946)tTa>tAa	p.L982*	TLL1_uc011cjn.2_Nonsense_Mutation_p.L1005*|TLL1_uc011cjo.2_Nonsense_Mutation_p.L806*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	982	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		GATTCAGTTTTAATTCATTTC	0.323000														61			24		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109489911	109489911	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:109489911C>T	uc002ten.1	+	13	1758	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Silent_p.S250S|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	566										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTGCAGAATCCTTGCAGCCTT	0.363000														82			26		0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191523919	191523919	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:191523919C>T	uc002usb.3	+	3	589	c.17C>T	c.(16-18)cCc>cTc	p.P6L	NAB1_uc010fsc.3_Missense_Mutation_p.P6L|NAB1_uc010fsd.3_Missense_Mutation_p.P6L|NAB1_uc002usc.3_Missense_Mutation_p.P6L|NAB1_uc010zgh.2_Missense_Mutation_p.P6L	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	6	NCD1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCGGCCTTACCCAGGACCCTG	0.398000														43			14		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793126	143793126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143793126C>T	uc011kty.2	+	0	926	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R308R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAACAGAGATCAATGTGAAGA	0.423000														140			56		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20507995	20507995	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:20507995G>A	uc001iqg.1	+	11	1913	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D377N|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	426	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTTCCAGATGATACCAAGAT	0.299000														16			13		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996137	2996137	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2996137C>T	uc010vrb.2	-	0	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	52					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGGCGGGAATCAGAGCTGATG	0.542000														111			46		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582947	82582947	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82582947T>A	uc003uhx.2	-	4	7611	c.7322A>T	c.(7321-7323)aAa>aTa	p.K2441I	PCLO_uc003uhv.2_Missense_Mutation_p.K2441I|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2372	Pro-rich.				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						TGTTAACTTTTTTTTAGGAAG	0.502000														13			3		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791982	41791982	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41791982G>A	uc010lxb.3	-	17	4300	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	KAT6A_uc010lxc.3_Silent_p.A1252A|KAT6A_uc003xon.4_Silent_p.A1252A	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1252					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTGCTGGAGAGGCTGCTGGGA	0.582000														16			7		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117700239	117700239	+	Silent	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:117700239A>T	uc003pxp.1	-	16	2779	c.2580T>A	c.(2578-2580)gcT>gcA	p.A860A	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	860					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCGAAGAACAGCTGTGTACA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									26			6		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588852	93588852	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:93588852G>A	uc010urc.2	-	3	984	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RGMA_uc002bsq.2_Silent_p.F227F|RGMA_uc021svs.1_Silent_p.F227F|RGMA_uc021svt.1_Silent_p.F227F|RGMA_uc010boi.2_Silent_p.F134F|RGMA_uc002bsr.2_Silent_p.F134F|RGMA_uc021svu.1_Silent_p.F227F|RGMA_uc002bss.2_Silent_p.F243F	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	243					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGCCATCCACGAAGGCGGCCG	0.592000														33			17		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32345045	32345045	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:32345045C>T	uc002wzy.3	+	5	853	c.833C>T	c.(832-834)cCc>cTc	p.P278L	ZNF341_uc002wzx.3_Missense_Mutation_p.P278L|ZNF341_uc010geq.3_Missense_Mutation_p.P188L|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGACCAAACCCCGCCGCCCCC	0.622000														146			70		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752390	15752390	+	Silent	SNP	G	A	A	rs150573744	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15752390G>A	uc010xok.2	+	1	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F3_uc010xol.2_Silent_p.P55P|CYP4F3_uc002nbj.3_Silent_p.P55P|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.P55P	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	55					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAACCCCCGAAACGGAATT	0.617000														67			25		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881147	64881147	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:64881147G>A	uc010wqi.2	+	5	855	c.618G>A	c.(616-618)gcG>gcA	p.A206A	CACNG5_uc010wqj.2_Silent_p.A206A	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	206				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	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)			GGTACACCGCGGAGGACATGT	0.612000														40			21		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137761296	137761296	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:137761296C>T	uc003vtz.3	+	0	119	c.32C>T	c.(31-33)cCt>cTt	p.P11L	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.P11L|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqf.2_Missense_Mutation_p.P11L|AKR1D1_uc011kqe.1_Missense_Mutation_p.P11L	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	11					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.P11R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACCGCATACCTCTAAGTGAT	0.443000														39			9		0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67203243	67203243	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67203243C>T	uc002erl.2	+	13	2281	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	HSF4_uc002erm.2_Missense_Mutation_p.P409L|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.2_5'Flank	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.	439					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TTAAATTCTCCAAGCCCAGGT	0.587000														11			6		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417869	150417869	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150417869G>A	uc003whq.3	+	2	917	c.777G>A	c.(775-777)tgG>tgA	p.W259*	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGGGCGCCTGGCTGTCGGCCC	0.746000														4			2		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506720	11506720	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:11506720T>C	uc001qzw.1	-	2	354	c.317A>G	c.(316-318)aAc>aGc	p.N106S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	106	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGGGGCTGGTTACCTCCTTG	0.612000														628			44		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934204	69934204	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:69934204C>T	uc001jnm.4	+	11	2540	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	MYPN_uc001jnn.4_Silent_p.L510L|MYPN_uc001jno.4_Silent_p.L785L|MYPN_uc009xpt.3_Silent_p.L785L|MYPN_uc010qit.2_Silent_p.L491L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	785	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATGAGCCACTCCCACCAGGCC	0.517000														51			19		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48251023G>A	uc001rql.3	-	5	1023	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	VDR_uc001rqm.3_Missense_Mutation_p.R158C|VDR_uc001rqn.3_Missense_Mutation_p.R158C|VDR_uc010slq.2_Missense_Mutation_p.R126C	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	158	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.S208I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552000														35			9		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880378	24880378	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24880378C>T	uc001wpf.4	+	4	2829	c.2511C>T	c.(2509-2511)ccC>ccT	p.P837P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	837					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTTTGTACCCACCTGGCAGC	0.582000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			34		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170366384	170366384	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170366384C>T	uc002ueu.1	+	0	173	c.96C>T	c.(94-96)ttC>ttT	p.F32F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	32					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AGAAAAAATTCATCGATTGCA	0.433000														120			35		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147171	111147171	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:111147171G>A	uc021oro.1	-	0	234	c.234C>T	c.(232-234)ttC>ttT	p.F78F	KCNA2_uc009wfv.2_Silent_p.F78F|KCNA2_uc009wfw.3_Silent_p.F78F	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	78						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTTCCGATCGAAAAAGTACT	0.493000														61			27		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254982	15254982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:15254982C>T	uc001iob.3	-	7	2612	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	869						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGTCTTCTCCTTGGTCATCA	0.557000														127			62		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27917999	27917999	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:27917999C>T	uc003xgm.4	-	7	1184	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	347						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGGCCACGTCCCTACAGAAGC	0.562000											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			4		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976112	94976112	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:94976112G>A	uc001tdj.2	-	1	399	c.281C>T	c.(280-282)gCg>gTg	p.A94V	TMCC3_uc001tdi.2_Missense_Mutation_p.A63V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	94						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CAGATACTCCGCAACATTCCC	0.453000														128			52		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559271	129559271	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:129559271G>A	uc009zyl.1	-	8	2777	c.2449C>T	c.(2449-2451)Cac>Tac	p.H817Y	TMEM132D_uc001uia.2_Missense_Mutation_p.H355Y	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	817						integral to membrane		p.V816I(1)		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)		TTTTCCATGTGAACCCCTGCC	0.488000														95			22		0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787882	38787882	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38787882G>A	uc002hux.2	-	8	902	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	SMARCE1_uc010wff.1_Silent_p.L225L|SMARCE1_uc010wfg.1_Silent_p.L190L|SMARCE1_uc002huy.2_Silent_p.L225L|SMARCE1_uc010wfh.1_Silent_p.L190L|SMARCE1_uc010wfi.1_Silent_p.L242L	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	260					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GTGCTTTCCAGGAATTTCCTC	0.348000														53			15		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350622	21350622	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:21350622T>G	uc011lni.2	-	0	265	c.265A>C	c.(265-267)Aac>Cac	p.N89H		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	89					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTGAAGAGGTTGAAGGTCTGC	0.488000														140			44		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080209	70080209	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70080209G>A	uc003heh.3	-	0	241	c.232C>T	c.(232-234)Cct>Tct	p.P78S	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	78					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAGATGTAGGATAAACTTCA	0.358000														107			40		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100806	93100806	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:93100806C>T	uc001tch.2	+	1	850	c.399C>T	c.(397-399)ctC>ctT	p.L133L	C12orf74_uc001tci.3_Silent_p.L133L|C12orf74_uc021rbt.1_Silent_p.L133L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	133										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ACAAGTATCTCCCTCCTGAGC	0.582000														60			28		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202337	103202337	+	Silent	SNP	C	T	T	rs139102992		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:103202337C>T	uc022ajr.1	-	34	5434	c.5274G>A	c.(5272-5274)gcG>gcA	p.A1758A	RELN_uc022ajq.1_Silent_p.A1758A|RELN_uc010liz.3_Silent_p.A1758A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1758					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)		CATTATCAATCGCCCAGGAAT	0.468000														50			11		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007653	6007653	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6007653C>T	uc001mcd.2	-	0	563	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTAATCCCCTCACCAGC	0.498000														32			21		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593610	55593610	+	Missense_Mutation	SNP	T	C	C	rs121913517		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:55593610T>C	uc010igr.3	+	10	1763	c.1676T>C	c.(1675-1677)gTt>gCt	p.V559A	KIT_uc010igs.3_Missense_Mutation_p.V555A|KIT_uc010igt.2_Missense_Mutation_p.V8A	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	559			Missing (in GIST).|Missing (in GIST; somatic mutation).|V -> A (in GIST).|V -> D (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(407)|p.V559D(239)|p.V559A(78)|p.V559del(61)|p.W557_E561del(59)|p.V559G(54)|p.W557_V559>C(44)|p.K550_K558del(43)|p.W557_V559>F(33)|p.E554_K558del(31)|p.K558_E562del(30)|p.V559_E561del(25)|p.K558_V559del(25)|p.V559?(21)|p.W557_V559del(21)|p.K558_V560del(20)|p.Q556_V560del(19)|p.V559_V560del(18)|p.V559_G565del(18)|p.K558>NP(18)|p.K558_V560>N(16)|p.W557_V560>C(14)|p.Y553_K558del(14)|p.K558_G565>R(13)|p.K558_V559>N(12)|p.V555_V559del(11)|p.K558_D572del(10)|p.Q556_V559>H(9)|p.M552_V559>I(9)|p.W557_Q575del(9)|p.Q556_V560>H(9)|p.W557_K558>E(8)|p.Y553_K558>(8)|p.V555_P573del(8)|p.W557_V560del(8)|p.Q556_D572del(8)|p.K558N(8)|p.Q556_V559del(8)|p.E554_V559del(8)|p.V555_K558del(8)|p.V555_I571del(7)|p.K558_V560>I(7)|p.Q556_V559>HT(7)|p.E554_V560>D(7)|p.V555_V560del(7)|p.K558_I563del(6)|p.Y553_T574>S(6)|p.Q556_K558del(6)|p.V559_T574del(6)|p.W557_V560>F(5)|p.K550_V559del(5)|p.K558del(5)|p.Q556_L576del(5)|p.V559I(5)|p.M552_D572del(5)|p.W557_P573>S(4)|p.Q556_D572>H(4)|p.W557_E562del(4)|p.M552_K558del(4)|p.K558_V559>SS(4)|p.P551_V559del(4)|p.V555_E562del(4)|p.Q556_T574del(4)|p.K558_N564del(4)|p.P551_K558del(3)|p.M552_E561>K(3)|p.W557_K558>CP(3)|p.W557_K558>S(3)|p.E554_I571del(3)|p.E554_D572>A(3)|p.K558E(3)|p.K558K(3)|p.K558R(3)|p.V555_D572del(3)|p.K558_V559>I(3)|p.K550_K558>Q(3)|p.Q556_K558>R(3)|p.Q556_P573del(3)|p.K558_G565del(3)|p.V559_E562del(3)|p.W557_I571del(3)|p.K558_E561del(3)|p.K558_Y570>N(3)|p.P551_V559>I(2)|p.Y553_E561>LK(2)|p.Y553_D572del(2)|p.W557_T574del(2)|p.L548_K558>Q(2)|p.K558_Q575del(2)|p.V555_Y570del(2)|p.M552_T574>TESA(2)|p.Q556_D572>PS(2)|p.V559_D572del(2)|p.W557_K558>CT(2)|p.E554_K558>G(2)|p.V559_P573>A(2)|p.V559_L576del(2)|p.M552_K558>T(2)|p.E554_E562del(2)|p.W557_K558>F(2)|p.Q556_N566>SNNLQLY(2)|p.W557_K558>Q(2)|p.V555_V560>V(2)|p.V559F(2)|p.V559K(2)|p.P551_V569del(2)|p.K558_L576>NV(2)|p.E554_N567del(2)|p.Q556_V560>TTF(2)|p.K558Q(2)|p.V559_I571del(2)|p.P551_V559del>L(2)|p.E554_D572del(2)|p.Y553_V559del(2)|p.V555_G565del(2)|p.W557_D572del(2)|p.V555_N566>D(2)|p.V559_N564del(2)|p.Q556_V560>HNLQLY(2)|p.Y553_E561del(2)|p.Q556_K558>HT(2)|p.Q556_N564>R(2)|p.K558_V560>M(2)|p.W557_N564del(2)|p.V555_Q575del(2)|p.V555_I563del(2)|p.Y547_K558>Q(2)|p.Q556_V560>F(2)|p.Q556_E561del(2)|p.Q556_E561>HH(2)|p.E554_N564del(2)|p.V559_N566>D(2)|p.Y553_V559>E(2)|p.K558>NQ(2)|p.Q556_E561>P(2)|p.Q556_N564>H(2)|p.Q556_L576>H(1)|p.K558_V559>TG(1)|p.Q556_K558>HPCR(1)|p.E554_Y568>D(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.K550_Y568del(1)|p.Q556_K558>PT(1)|p.M552_K558>NE(1)|p.V555_V559>G(1)|p.E554_N564>D(1)|p.E554_I571>A(1)|p.P551_E561>Q(1)|p.K558_V559insS(1)|p.K550_V560>L(1)|p.M552_V559>IT(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.W557_K558>C(1)|p.Y553_P573del(1)|p.Q556_V559>PF(1)|p.K558_V560>NH(1)|p.E554_L576>DNCSHLSPQQP(1)|p.V555_V560>T(1)|p.W557_E561>PS(1)|p.K558*(1)|p.K558_G565>A(1)|p.Y553_K558>SE(1)|p.W557_K558>FP(1)|p.K558_G565>N(1)|p.W557_K558>FQ(1)|p.W557_K558>SS(1)|p.Y553_N564>L(1)|p.Q556_V559>HF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_V560>Q(1)|p.K558_T574>NRS(1)|p.W557_P573del(1)|p.V555_V560>H(1)|p.K558_L576>N(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.V559_S590del(1)|p.(550_592)ins7(1)|p.K550_K558>G(1)|p.W557_V559>I(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.Q556_K558>N(1)|p.Q556_K558>T(1)|p.K558_V559>S(1)|p.W557_N564>C(1)|p.W557_K558>CQ(1)|p.M552_Y570del(1)|p.K558_V559>QP(1)|p.E554_N566del(1)|p.Y553_K558>L(1)|p.M552_V560del(1)|p.W557_Y570del(1)|p.M552_I563del(1)|p.W557_K558>Y(1)|p.Q556_K558>H(1)|p.V555_N564del(1)|p.W557_V559>PF(1)|p.K558_P573>R(1)|p.W557_V559>E(1)|p.K558_D572>N(1)|p.V559_P573del(1)|p.Q556_Q575del(1)|p.V559_V569del(1)|p.Q556_E561>PS(1)|p.Y553_V559>L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGTGGAAGGTTGTTGAGGAG	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					63			15		0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340328	34340328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:34340328C>T	uc002hkt.1	-	3	343	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	CCL23_uc002hks.1_Missense_Mutation_p.R108Q	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	91					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	ACAGAAACGTCGCCCCTTCTT	0.532000														14			6		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298103	62298103	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:62298103A>G	uc001ntl.3	-	4	4086	c.3786T>C	c.(3784-3786)ttT>ttC	p.F1262F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1262					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGCTAAACTTGGGCA	0.512000														240			164		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325350	47325350	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:47325350G>A	uc001cqo.1	-	8		c.1218C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CGTCCATCTGGAAAGGTAATG	0.433000														145			7		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197703559	197703559	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:197703559C>T	uc010iar.3	+	4	544	c.522C>T	c.(520-522)ccC>ccT	p.P174P	LMLN_uc003fyt.3_Silent_p.P122P|LMLN_uc011buo.2_Silent_p.P174P|LMLN_uc010ias.3_Silent_p.P122P|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	174					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.P174P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AGTGCGGCCCCGTTATTGTTC	0.483000														120			40		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786621	160786621	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160786621C>T	uc001fwu.3	+	4	1360	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	LY9_uc001fwv.3_Missense_Mutation_p.S437F|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.S89F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	437	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGCAGGAGTTCCCACCAGTTT	0.502000														66			27		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166960300	166960300	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:166960300C>T	uc011bpc.2	-	20	2723	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	ZBBX_uc003feq.3_Missense_Mutation_p.E728K|ZBBX_uc003fep.3_Missense_Mutation_p.E757K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	757						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TACCTCAATTCCTCAACTCCA	0.353000														65			12		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039860	32039860	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32039860G>A	uc003nzl.2	-	12	5099	c.4897C>T	c.(4897-4899)Cct>Tct	p.P1633S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1715	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCAGGTCAGGGATAGTGACC	0.592000														19			7		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169846139	169846139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:169846139G>A	uc011cjx.2	+	19	3479	c.3268G>A	c.(3268-3270)Gga>Aga	p.G1090R	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.G1073R|PALLD_uc003irv.3_Missense_Mutation_p.G691R|PALLD_uc003irw.3_Missense_Mutation_p.G586R|PALLD_uc003irx.3_Missense_Mutation_p.G299R	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1297					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)		GCTCATTCAGGGAGCCACAAA	0.473000									Pancreatic Cancer, Familial Clustering of					54			23		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024537	55024537	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:55024537C>T	uc002lgn.3	+	2	1053	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	232					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACAACTTTTTCCTCAGTTTAA	0.403000														73			23		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	T	T	rs148365070	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:147120535C>T	uc011bno.2	-	1	386	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000														92			37		0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96728589	96728589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:96728589G>A	uc001tep.2	-	1	658	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CDK17_uc009ztk.3_Missense_Mutation_p.S9F|CDK17_uc010svb.2_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	9							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GAGTGTGAGGGATAGCCTTCT	0.323000														21			7		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975987	118975987	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:118975987G>A	uc003ibx.3	+	1	1325	c.922G>A	c.(922-924)Gat>Aat	p.D308N	NDST3_uc011cgf.1_Missense_Mutation_p.D308N|NDST3_uc003ibw.3_Missense_Mutation_p.D308N	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	308	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATTCTTGTGGATATTGATGA	0.393000														136			47		0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389042	119389042	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:119389042C>T	uc022cdm.1	+	0	1772	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	ZBTB33_uc010nqm.1_Missense_Mutation_p.S591F|ZBTB33_uc004esn.1_Missense_Mutation_p.S591F	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	591	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCATGCAGGTCTTTACAAATC	0.368000														60			35		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183367	167183367	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167183367C>T	uc003fes.1	-	3	674	c.603G>A	c.(601-603)caG>caA	p.Q201Q	SERPINI2_uc003fer.1_Silent_p.Q191Q|SERPINI2_uc003fet.1_Silent_p.Q191Q	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	191					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCTGAATTTCTGTTTCCAAT	0.363000														29			11		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650914	142650914	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142650914C>T	uc003wcb.3	-	8	1264	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	352					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)					AGCAGCATCTCCTCCACCAGT	0.532000														311			107		0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117066690	117066690	+	Missense_Mutation	SNP	T	C	C	rs1263502	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:117066690T>C	uc001pqg.2	+	25	2599	c.2558T>C	c.(2557-2559)cTc>cCc	p.L853P	SIDT2_uc010rxe.1_Missense_Mutation_p.L832P|SIDT2_uc001pqh.1_Intron|SIDT2_uc001pqi.1_Intron|LOC100652768_uc001pqk.1_Non-coding_Transcript	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	0						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGCCTCCTTCTCTGTGGCTGA	0.602000														76			7		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246598	80246598	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:80246598T>G	uc003hlt.4	-	0	574	c.434A>C	c.(433-435)tAt>tCt	p.Y145S	NAA11_uc021xpl.1_Missense_Mutation_p.Y145S	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	145	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTTCATAGCATAAGCATCTTC	0.507000														44			12		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900635	51900635	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:51900635C>G	uc002iua.2	+	0	397	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	81					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGCTGAATCCAGCTCTGGA	0.567000														127			50		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597889	2597889	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:2597889C>T	uc002wgf.1	+	15	2127	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	TMC2_uc002wgg.1_Silent_p.F688F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	704						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTGCTCTTCCTCAGCCTCC	0.612000														44			17		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276671	114276671	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:114276671C>T	uc003ibe.4	+	37	6997	c.6897C>T	c.(6895-6897)gaC>gaT	p.D2299D	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.D2314D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2266					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACTGAGGACTCAGAGACCT	0.488000														44			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21108820	21108820	+	Splice_Site	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21108820A>G	uc010vbe.2	-	18	2521	c.2521_splice	c.e18-1	p.L841_splice		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	841	Stem (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)		TTATTGATCAACTGCAGGGCA	0.478000														50			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068846	9068846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9068846C>T	uc002mkp.3	-	2	18804	c.18600G>A	c.(18598-18600)atG>atA	p.M6200I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6202	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						GATCATTGTTCATGACACTGG	0.473000														63			26		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26080014	26080014	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26080014C>T	uc001bkm.2	+	4	1204	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	MAN1C1_uc009vry.1_Silent_p.L112L	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	292					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGAGAAGCTCCTGCCGGCGTT	0.587000														32			10		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670693	110670693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:110670693G>A	uc011cft.2	-	9	1238	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	CFI_uc003hzq.3_Nonsense_Mutation_p.R133*|CFI_uc003hzr.4_Nonsense_Mutation_p.R336*	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	336	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CGTTTCCTTCGAATGTGCATT	0.383000														74			17		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173933267	173933267	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:173933267G>A	uc010pmt.2	-	9	1762	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	RC3H1_uc001gju.4_Missense_Mutation_p.P559S|RC3H1_uc010pms.2_Missense_Mutation_p.P559S|RC3H1_uc001gjv.3_Missense_Mutation_p.P559S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	559	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCCCCTTGGAGGTATAGAA	0.418000														67			13		0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41228590	41228590	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41228590G>A	uc001cge.3	+	5	600	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	NFYC_uc010ojm.1_Missense_Mutation_p.G104S|NFYC_uc001cfx.4_Missense_Mutation_p.G198S|NFYC_uc009vwd.3_Missense_Mutation_p.G198S|NFYC_uc001cfz.3_Missense_Mutation_p.G198S|NFYC_uc010ojn.2_Missense_Mutation_p.G160S|NFYC_uc001cfy.4_Missense_Mutation_p.G198S|NFYC_uc001cgc.3_Intron|NFYC_uc001cgb.3_Missense_Mutation_p.G198S	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA.	198				G -> S (in Ref. 4; BAA12818/BAA14051).	protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTTGGAGAAGGTCAGCAGGT	0.542000														55			20		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681844	91681845	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681844_91681845CC>TT	uc001xyw.2	+	12	2012_2013	c.1660_1661CC>TT	c.(1660-1662)ccc>TTc	p.P554F	C14orf159_uc001xyz.2_Missense_Mutation_p.P425F|C14orf159_uc001xzb.2_Missense_Mutation_p.P549F|C14orf159_uc001xyx.2_Missense_Mutation_p.P497F|C14orf159_uc001xzc.2_Missense_Mutation_p.P549F|C14orf159_uc001xza.2_Missense_Mutation_p.P554F|C14orf159_uc001xyv.2_Missense_Mutation_p.P514F|C14orf159_uc001xze.2_Missense_Mutation_p.P549F	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	549						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)		AGCAGTCGGACCCTCCAGGGCA	0.584000														62			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412393	105412393	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:105412393G>T	uc010axc.1	-	6	9515	c.9395C>A	c.(9394-9396)gCc>gAc	p.A3132D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A3032D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3132						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCGGCCAGGGACAG	0.612000														91			32		4.07013e-28	4.15515e-28	1	1	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:99567893C>T	uc003dtm.3	-	4	3090	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.G876E|FILIP1L_uc010hpf.3_Missense_Mutation_p.G452E|FILIP1L_uc010hpg.3_Missense_Mutation_p.G636E|FILIP1L_uc003dtn.3_Missense_Mutation_p.G636E|FILIP1L_uc021xbr.1_Missense_Mutation_p.G636E|FILIP1L_uc003dtp.1_Missense_Mutation_p.G636E	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000														170			46		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40581068	40581068	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40581068C>T	uc001zld.3	-	31	3707	c.3406G>A	c.(3406-3408)Gca>Aca	p.A1136T	PLCB2_uc001zlc.3_Missense_Mutation_p.A120T|PLCB2_uc010bbo.3_Missense_Mutation_p.A1132T|PLCB2_uc010ucm.2_Missense_Mutation_p.A1121T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1136					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCACCTCTGCCTCCAGACCC	0.657000														60			23		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148431805	148431805	+	Splice_Site	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:148431805T>A	uc003lpu.3	-	2	205	c.53_splice	c.e2-1	p.G18_splice	SH3TC2_uc003lpp.1_Splice_Site|SH3TC2_uc003lpt.3_Splice_Site|SH3TC2_uc010jgx.3_Splice_Site_p.G18_splice|SH3TC2_uc003lpv.1_Splice_Site|SH3TC2_uc011dbz.1_Splice_Site|SH3TC2_uc003lpw.1_Splice_Site_p.G18_splice	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	18							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTTTACCTGGAGAAGATG	0.378000														96			31		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687916	61687916	+	Missense_Mutation	SNP	G	A	A	rs140000814	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:61687916G>A	uc002eog.2	-	11	2951	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGTAGCGAATGATGTTT	0.408000														126			38		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726928	63726928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:63726928G>A	uc003tsx.3	+	4	1186	c.917G>A	c.(916-918)aGc>aAc	p.S306N		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	306					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						AAAGCCTTTAGCTTATCCTCA	0.448000														53			10		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32030173	32030173	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32030173G>A	uc003nzl.2	-	19	7131	c.6929C>T	c.(6928-6930)aCc>aTc	p.T2310I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2372	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCTGTCACGGTCAGCTCCTC	0.597000														22			14		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74334467	74334467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:74334467G>A	uc003dpm.1	-	18	2773	c.2693C>T	c.(2692-2694)aCc>aTc	p.T898I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	898	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CGTTTTCTTGGTGGTTACATT	0.453000														138			33		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039606	41039606	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41039606A>G	uc003jmj.4	-	19	2495	c.2005T>C	c.(2005-2007)Tta>Cta	p.L669L	HEATR7B2_uc003jmi.4_Silent_p.L224L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	669							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGAACTTTTAAAACAATATCC	0.308000														14			3		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821147	5821147	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:5821147C>T	uc010ndi.3	-	5	2147	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	NLGN4X_uc004crp.3_Missense_Mutation_p.M544I|NLGN4X_uc010ndh.3_Missense_Mutation_p.M524I|NLGN4X_uc004crq.3_Missense_Mutation_p.M524I|NLGN4X_uc004crr.3_Missense_Mutation_p.M524I|NLGN4X_uc010ndj.3_Missense_Mutation_p.M524I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	524					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.M524I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCCAGTAGGTCATGACCACGG	0.502000														43			33		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381904	43381904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:43381904C>T	uc003cms.4	+	4	1189	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SNRK_uc003cmt.4_Missense_Mutation_p.S286L|SNRK_uc010hik.3_Missense_Mutation_p.S286L|SNRK_uc011azr.2_Missense_Mutation_p.S80L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	286					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCCCTTGTGTCATACAAAAAT	0.478000														71			29		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605180	7605180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:7605180C>T	uc021pmv.1	-	13	2801	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	ITIH5_uc021pmu.1_Missense_Mutation_p.E685K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	899					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATCTGCTCTTCCCCGTTGTAA	0.537000														84			30		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260132	30260132	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:30260132C>T	uc002kxm.1	-	7	1976	c.1588_splice	c.e7+1	p.G530_splice		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	530						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AAAAAAAGACCTTTCAAATGA	0.353000														34			9		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69583186	69583186	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:69583186C>T	uc003tvw.4	+	2	1326	c.591C>T	c.(589-591)ttC>ttT	p.F197F	AUTS2_uc003tvv.4_Silent_p.F197F|AUTS2_uc003tvx.4_Silent_p.F197F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	197										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAAGGGCTTCCACCGGAGCA	0.423000														34			13		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412914	11412914	+	Silent	SNP	G	A	A	rs111642844		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:11412914G>A	uc003wty.3	+	7	1274	c.693G>A	c.(691-693)caG>caA	p.Q231Q		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	231					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q231H(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTGGGCCCAGGATGAATGGG	0.612000														58			17		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459255	99459255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:99459255C>T	uc003ury.1	+	10	1149	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	CYP3A43_uc003urx.1_Missense_Mutation_p.A349V|CYP3A43_uc003urz.1_Missense_Mutation_p.A349V|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.A239V|CYP3A43_uc003usb.1_Missense_Mutation_p.A209V	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	349			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)	ACCTACGATGCCCTGGTACAG	0.408000														22			10		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499271	56499271	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56499271A>G	uc002qmh.3	+	9	3210	c.3139A>G	c.(3139-3141)Aat>Gat	p.N1047D	NLRP8_uc010etg.3_Missense_Mutation_p.N1028D	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1047						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)		ATCCCAGATTAATCCTTAGGC	0.498000														44			20		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186037070	186037070	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:186037070C>T	uc001grq.1	+	49	8039	c.7810C>T	c.(7810-7812)Cca>Tca	p.P2604S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2604	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCATATCCTCCAGCTACCAT	0.428000														124			27		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7179793	7179793	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:7179793C>T	uc002qys.3	+	8	1223	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	261						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGCTGCTGCTCTTGGTGGC	0.517000														119			45		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171396	124171396	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:124171396A>C	uc001ufp.3	+	5	706	c.578A>C	c.(577-579)aAt>aCt	p.N193T	TCTN2_uc009zya.3_Missense_Mutation_p.N192T	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	193					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCATCAAATTTAACAACG	0.507000														102			43		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73156632	73156632	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:73156632G>A	uc003hgk.2	-	19	2908	c.2871C>T	c.(2869-2871)agC>agT	p.S957S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	957	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGGCCGGCGGCTCTCGGGAC	0.567000														47			11		0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85109504	85109504	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:85109504C>T	uc002fiu.3	+	4	778	c.558C>T	c.(556-558)ttC>ttT	p.F186F	KIAA0513_uc010voj.2_Silent_p.F186F|KIAA0513_uc002fit.3_Silent_p.F186F	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	186						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCATGTGCTTCACCTACTACC	0.502000														35			12		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389812	1389812	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:1389812G>A	uc001aft.2	+	3	1305	c.310G>A	c.(310-312)Ggg>Agg	p.G104R		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	104							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGGCTGGGGAAGCCGTC	0.677000														8			5		0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67694967	67694967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67694967C>T	uc002ett.3	+	0	117	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Missense_Mutation_p.A9V	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA.	9	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGGACTCCGGCGCGCAGTCCC	0.741000														70			14		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944566	50944566	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50944566C>T	uc009xog.3	-	20	2706	c.2672_splice	c.e20-1	p.G891_splice	OGDHL_uc001jie.3_Splice_Site_p.G864_splice|OGDHL_uc010qgt.2_Splice_Site_p.G807_splice|OGDHL_uc010qgu.2_Splice_Site_p.G655_splice	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	864					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAAGCTGGTCCCTGAGGGACC	0.632000														34			13		0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54417813	54417813	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:54417813C>T	uc001cwj.1	+	1	341	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LRRC42_uc001cwk.1_Silent_p.F47F	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	47										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TCAGACTGTTCCCCAAAGGCT	0.517000														79			26		0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366490	49366490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:49366490C>T	uc002xvo.3	+	2	827	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	195	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATCTTTATATCCAGGCTTGTC	0.458000														82			32		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203622061	203622061	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:203622061C>T	uc010zhx.2	+	5	1240	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	410										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCAGCCGTTCCCAGTCCGTGT	0.567000														48			27		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886965	150886965	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:150886965C>T	uc003lue.4	-	21	12280	c.12267G>A	c.(12265-12267)agG>agA	p.R4089R	FAT2_uc003lud.4_Silent_p.R696R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4089					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAACACTCCTGGCCAGGA	0.572000														43			23		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272736	81272736	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:81272736G>A	uc009xrx.3	+	0	380	c.331G>A	c.(331-333)Gac>Aac	p.D111N	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	111					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGTACCAGAGGACCTTCGTCT	0.527000														46			17		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469304	10469304	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10469304G>A	uc003wtc.3	-	3	2533	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	768					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCATGTCCTGGACCCCGCGT	0.662000														45			16		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:31317540C>T	uc003jhe.2	+	9	1931	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_uc003jhd.2_Missense_Mutation_p.S524L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	524	Cadherin 5.				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						CACCAATTTTCGTTTTCCTTG	0.403000														70			25		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180838387	180838387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:180838387G>A	uc010frh.1	-	6	1024	c.724C>T	c.(724-726)Cga>Tga	p.R242*	CWC22_uc002unp.2_Nonsense_Mutation_p.R242*	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	242	MIF4G.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAGCCTTTTCGAAAATTAAGA	0.323000														19			5		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22642702	22642702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:22642702G>A	uc002kvk.2	-	7	4157	c.3910C>T	c.(3910-3912)Cat>Tat	p.H1304Y	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.H1304Y|ZNF521_uc002kvl.2_Missense_Mutation_p.H1084Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1304					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCATTGTATGATTCTGTAAA	0.318000			T	PAX5	ALL									25			6		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058417	152058417	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152058417C>T	uc001ezo.1	-	2	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	581							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGACTCTCCATGTTGGTCC	0.537000														214			48		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902315	16902315	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16902315G>A	uc002neu.4	+	13	3517	c.3095G>A	c.(3094-3096)gGa>gAa	p.G1032E	NWD1_uc002net.4_Missense_Mutation_p.G897E|NWD1_uc002nev.4_Missense_Mutation_p.G826E|NWD1_uc021uqg.1_Missense_Mutation_p.G897E	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1032							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						TCAGCTACGGGAAAACTTCAG	0.547000														58			18		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187235	12187235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:12187235C>T	uc002mtb.2	+	3	1443	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	ZNF844_uc010dym.1_Missense_Mutation_p.P277S	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCTTCCACTTCCTTTCGATAT	0.428000														78			31		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120602772	120602772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:120602772G>A	uc003yos.2	-	13	1422	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ENPP2_uc003yor.2_Nonsense_Mutation_p.R33*|ENPP2_uc010mdd.2_Nonsense_Mutation_p.R394*|ENPP2_uc003yot.2_Nonsense_Mutation_p.R394*	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	394					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTGGATCGAATTCTTCCT	0.333000														26			7		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733329	40733329	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:40733329G>A	uc002xkg.3	-	24	3604	c.3420C>T	c.(3418-3420)atC>atT	p.I1140I	PTPRT_uc010ggj.3_Silent_p.I1159I|PTPRT_uc010ggi.3_Silent_p.I343I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1140	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	p.E1140A(1)		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)				ACGCTTCCAGGATGGCATCGT	0.527000														57			28		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847545	215847545	+	Missense_Mutation	SNP	G	A	A	rs141340831		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:215847545G>A	uc001hku.1	-	62	14095	c.13708C>T	c.(13708-13710)Cgt>Tgt	p.R4570C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4570	Fibronectin type-III 31.				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)		AATAGTTCACGGATGAAGAGG	0.393000										HNSCC(13;0.011)				201			35		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405383	70405384	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:70405383_70405384AC>TT	uc001jok.4	+	3	3402_3403	c.2897_2898AC>TT	c.(2896-2898)aac>aTT	p.N966I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	966					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTTCATGCAACACGGTGGTTT	0.406000														60			19		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281750	103281750	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:103281750C>T	uc002tca.3	+	2	1087	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	315						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTTTGTTTTCCTGTACAGTT	0.438000														71			26		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51060569	51060569	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:51060569T>G	uc021rsw.1	+	4	769	c.528T>G	c.(526-528)taT>taG	p.Y176*	ATL1_uc001wyd.4_Nonsense_Mutation_p.Y176*|ATL1_uc001wyf.4_Nonsense_Mutation_p.Y176*|ATL1_uc001wye.4_Nonsense_Mutation_p.Y176*|ATL1_uc021rsx.1_Nonsense_Mutation_p.Y176*	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	176					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCAAGGTATATAACTTATCCC	0.318000														34			5		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1559958	1559958	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:1559958A>C	uc002fte.3	-	34	5717	c.5603T>G	c.(5602-5604)aTg>aGg	p.M1868R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1868	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGGTCCAGCATGCCCTTCCT	0.547000														30			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540487	55540487	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55540487G>A	uc003xsd.1	+	3	4193	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1349					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)			AAACTCCAAAGAAAACACATA	0.363000														80			30		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87033186	87033186	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:87033186G>A	uc009wcs.3	+	6	1078	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	CLCA4_uc009wct.3_Missense_Mutation_p.G108E|CLCA4_uc009wcu.3_Missense_Mutation_p.G165E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	345	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCCTGGGTGGGGATGGTTCAC	0.388000														26			18		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245294	7245294	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:7245294G>A	uc002ggd.2	+	2	345	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	47	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGTCTCCTGGAAAGTGGGCG	0.622000														63			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477334	110477334	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:110477334C>T	uc003yne.3	+	48	8377	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2758					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)			GGAGTGACATCCATCTCTGGA	0.483000										HNSCC(38;0.096)				81			24		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274616	29274616	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29274616C>T	uc011dln.2	+	0	150	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	50					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						TTACCGTGGACCGTCGTCTCC	0.468000														121			41		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020659	5020659	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5020659C>T	uc010qyu.2	+	0	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGTTTGGCCTGTTTGCTAC	0.502000														88			51		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3920780	3920780	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3920780G>A	uc010xhz.2	+	12	1591	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ATCAY_uc002lyy.4_Missense_Mutation_p.E364K|ATCAY_uc010dts.3_Missense_Mutation_p.E121K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	364					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)		TCTGGTCTCAGAAGATCAGGA	0.448000														17			4		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055221	62055221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:62055221C>T	uc002eog.2	-	1	1042	c.87G>A	c.(85-87)atG>atA	p.M29I		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	29					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448000														66			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072100	9072100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9072100C>T	uc002mkp.3	-	2	15550	c.15346G>A	c.(15346-15348)Gaa>Aaa	p.E5116K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5118	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						GGAAAAATTTCCTTTGTGTCT	0.443000														68			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476318	179476318	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179476318C>T	uc021vsy.1	-	217	43159	c.42934G>A	c.(42934-42936)Ggt>Agt	p.G14312S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8007S|TTN_uc021vta.1_Missense_Mutation_p.G7940S|TTN_uc021vtb.1_Missense_Mutation_p.G7815S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15239							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)			GGACTTCCACCATTTTTCTCT	0.448000														65			33		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101615563	101615563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:101615563C>T	uc022cav.1	-	26	2821	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	NXF2_uc004eiz.4_3'UTR|NXF2_uc004ejb.4_Missense_Mutation_p.E614K|NXF2_uc004eiy.4_Missense_Mutation_p.E614K	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	614	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding	p.E614*(1)|p.E614Q(1)		endometrium(2)|lung(2)	4						ATCTTGCCCTCGGTCTAGAGA	0.507000														94			19		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731966	96731966	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96731966G>T	uc001kka.4	+	5	950	c.925G>T	c.(925-927)Gct>Tct	p.A309S	CYP2C9_uc009xut.3_Missense_Mutation_p.A307S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	309					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTGAGATATGCTCTCCTTCT	0.428000														128			40		6.5261e-18	6.64075e-18	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582527	55582527	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55582527C>T	uc010qhy.1	-	34	5375	c.4980G>A	c.(4978-4980)ttG>ttA	p.L1660L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1655L|PCDH15_uc021pqz.1_Silent_p.L1630L|PCDH15_uc010qhv.1_Silent_p.L1650L|PCDH15_uc010qhw.1_Silent_p.L1613L|PCDH15_uc010qhx.1_Silent_p.L1584L|PCDH15_uc010qhz.1_Silent_p.L1655L|PCDH15_uc010qia.1_Silent_p.L1633L|PCDH15_uc001jju.1_Silent_p.L1653L|PCDH15_uc010qib.1_Silent_p.L1630L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1653					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAGAGATTTCAACTGTTCTG	0.413000										HNSCC(58;0.16)				94			31		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8420999	8420999	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:8420999A>G	uc011did.2	-	5	1014	c.637T>C	c.(637-639)Ttt>Ctt	p.F213L	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Missense_Mutation_p.F213L|SLC35B3_uc003myb.3_Missense_Mutation_p.F213L	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	213					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GCGAGGGTAAACCATATCAGG	0.378000														77			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107179230	107179230	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:107179230C>T	uc021ser.1	-	36		c.2194G>A								Parts of antibodies, mostly variable regions.																		ACGGGACAGTCAGTAGCAGGA	0.517000														48			8		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512783	70512783	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:70512783G>A	uc011caq.2	-	1	696	c.580C>T	c.(580-582)Cct>Tct	p.P194S	UGT2A1_uc010ihu.3_Missense_Mutation_p.P194S|UGT2A1_uc003hem.4_Missense_Mutation_p.P194S|UGT2A1_uc010iht.3_Missense_Mutation_p.P194S	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	194					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAAACAGCAGGAACATAGGAA	0.408000														57			19		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437076	201437076	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:201437076C>T	uc002uvw.2	+	6	2120	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SGOL2_uc010zhd.1_Silent_p.I669I|SGOL2_uc010zhe.1_Silent_p.I669I	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	669					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						AGCTTCAAATCCCAGCTCTTT	0.378000														64			20		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078808	97078808	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:97078808G>A	uc021rcc.1	+	9	1158	c.1080_splice	c.e9-1	p.R360_splice				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	360										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						CTGTTTTAGGGCTGCTTTTAA	0.418000														18			5		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32820001	32820001	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32820001G>A	uc003ocg.3	-	2	1064	c.909C>T	c.(907-909)ttC>ttT	p.F303F	TAP1_uc011dqi.2_Silent_p.F42F|PSMB9_uc011dqj.2_5'Flank|PSMB9_uc003sga.3_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	303	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGTCACCCACGAACTCCAGCA	0.532000														52			25		0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46603350	46603350	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:46603350C>T	uc002zgy.2	+	6	1756	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Nonsense_Mutation_p.Q441*|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Nonsense_Mutation_p.Q441*|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Nonsense_Mutation_p.Q441*|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	441	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGAGAATGTCCAGTTTCATCT	0.428000														33			16		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362132	25362132	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:25362132G>A	uc001upr.3	+	6	659	c.618G>A	c.(616-618)aaG>aaA	p.K206K	RNF17_uc010tdd.1_Silent_p.K65K|RNF17_uc010tde.2_Silent_p.K206K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.K145K|RNF17_uc001upq.1_Silent_p.K206K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	206					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.K206N(3)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAGGAAAAAGAACCTGTGTG	0.269000														37			14		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56357810	56357810	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:56357810C>T	uc002ivu.1	-	1	342	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	55					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTCCACCTCCCCCAGGACAG	0.627000														25			7		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44143993	44143993	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:44143993C>T	uc003owt.1	+	8	957	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	307	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCCAGGTCCACTACAGAGG	0.577000														42			13		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247328	55247328	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55247328G>A	uc002qgu.1	+	6	1114	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	366						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GAACAGAACAGTGAACAGGGA	0.532000														41			43		0	0	1	0	0
AMT	275	broad.mit.edu	37	3	49459563	49459563	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:49459563G>A	uc003cww.3	-	1	460	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	AMT_uc011bcn.2_Missense_Mutation_p.L30F|AMT_uc003cwx.3_Missense_Mutation_p.L78F|AMT_uc011bco.2_Missense_Mutation_p.L78F|AMT_uc003cwy.3_Missense_Mutation_p.L30F|AMT_uc011bcq.2_Intron|AMT_uc011bcp.2_Intron	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACGTCAAAGAGCGAGCAGTGC	0.592000														66			31		0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384678	58384678	+	Silent	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:58384678C>A	uc001nmx.4	+	10	1380	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	ZFP91_uc001nmy.4_Silent_p.I403I|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	404					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATGTGAGATCTGTGGATTTA	0.388000														19			17		0.00074312	0.000746461	1	1	0
CDC14C	168448	broad.mit.edu	37	7	48964523	48964523	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:48964523G>A	uc010kyv.1	+	0	367	c.255G>A	c.(253-255)agG>agA	p.R85R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CAATGTTAAGGAAGAAAATTG	0.378000														48			23		0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25270077	25270077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:25270077G>A	uc003grk.2	+	7	1224	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	PI4K2B_uc011bxs.2_Nonsense_Mutation_p.W268*	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	364	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CCATTTCACTGGGCTTGGCTT	0.348000														25			13		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493587	60493587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:60493587C>T	uc010wpc.2	+	11	1441	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	EFCAB3_uc002izu.2_Missense_Mutation_p.S405F	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	405							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAGAAATTCCTCCCATAAC	0.373000														80			38		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176407	142176407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142176407G>A	uc003yvy.3	+	11	1710	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	DENND3_uc010mep.3_Missense_Mutation_p.D439N|DENND3_uc003yvz.1_Missense_Mutation_p.D162N	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	478										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACCTGCAGGACATTGCCAT	0.642000														92			32		0	0	1	0	0
RPS5	6193	broad.mit.edu	37	19	58904729	58904729	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:58904729C>T	uc002qsn.3	+	3	394	c.322C>T	c.(322-324)Cct>Tct	p.P108S	LOC646862_uc021vcz.1_5'Flank	NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	108					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TCTCTAGAACCCTCTGCAGGT	0.572000														84			30		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628001	33628001	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:33628001G>A	uc001uus.3	+	1	925	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	KL_uc001uur.1_5'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	306	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P305S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATCAATCCTCGAAGAATGACC	0.468000														75			56		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214174840	214174840	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:214174840C>T	uc002veq.3	+	3	429	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	SPAG16_uc010fuz.2_Intron|SPAG16_uc002ver.3_Missense_Mutation_p.L59F|SPAG16_uc010zjk.2_Intron|SPAG16_uc002veo.3_Missense_Mutation_p.L113F|SPAG16_uc002ves.1_Missense_Mutation_p.L82F	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	113					cilium assembly	cilium axoneme|flagellar axoneme		p.L113L(1)|p.F112C(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGAAGACTTTCTCTGCAATTT	0.323000														29			16		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33152008	33152008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:33152008C>T	uc003ocx.1	-	7	1261	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	345	Nonhelical 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						TAGGTGTAATCGTAGGGCCCT	0.597000														61			19		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129160347	129160347	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:129160347C>T	uc010qun.2	+	32	3367	c.3303C>T	c.(3301-3303)ttC>ttT	p.F1101F	DOCK1_uc001ljt.3_Silent_p.F1080F|DOCK1_uc009yaq.3_Silent_p.F75F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1080					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGATAAAGTTCATTCCAGAAA	0.373000														21			8		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:47360202C>T	uc021qis.1	-	22	2232	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_uc021qir.1_Missense_Mutation_p.R378H|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(3)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642000														9			4		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1013248	1013248	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:1013248G>A	uc002lqr.1	-	2	745	c.599C>T	c.(598-600)cCc>cTc	p.P200L	C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.P200L	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	200						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTGGTGGGCGTCTCGGG	0.637000														47			13		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691556	68691556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:68691556C>T	uc003hdq.3	-	8	1054	c.989G>A	c.(988-990)aGa>aAa	p.R330K	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.R111K|TMPRSS11D_uc011caj.2_Missense_Mutation_p.R213K	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	330	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTATTATTCTGACCTGTCC	0.408000														92			27		0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080485	30080485	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:30080485T>G	uc003npg.1	-	1	208	c.98A>C	c.(97-99)cAc>cCc	p.H33P	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	33						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GCAGAAATTGTGCCCACAGTC	0.483000														73			28		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784918	140784918	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140784918C>T	uc003lkh.2	+	0	2399	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.P800L|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	810					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAGTTTCCTATAGAAGAC	0.403000														73			23		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666372	34666372	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34666372G>A	uc001bxt.3	+	3	1848	c.1010_splice	c.e3-1	p.E337_splice	C1orf94_uc001bxs.4_Splice_Site_p.E147_splice	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	147							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCCTGCTACAGAATGGAGCCC	0.542000														60			28		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141327125	141327125	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:141327125G>A	uc011chi.2	-	5	608	c.390C>T	c.(388-390)ttC>ttT	p.F130F	CLGN_uc003iii.3_Silent_p.F130F	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	130					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CAGCAAAAATGAATGGTTTTG	0.343000														28			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348542	140348542	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140348542T>G	uc003lii.3	+	0	2796	c.2191T>G	c.(2191-2193)Tgc>Ggc	p.C731G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.C731G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	731					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCATCAAGTGCTACCGCTA	0.418000														53			16		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329624	33329624	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:33329624A>T	uc002xav.3	-	11	7007	c.4436T>A	c.(4435-4437)tTg>tAg	p.L1479*	NCOA6_uc002xaw.3_Nonsense_Mutation_p.L1479*|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Nonsense_Mutation_p.L1479*|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1479					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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						AGGAGACACCAAATTTTTGTT	0.458000														83			30		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29195942	29195942	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:29195942G>A	uc003xhm.3	-	2	1128	c.656C>T	c.(655-657)gCc>gTc	p.A219V	DUSP4_uc003xhl.3_Missense_Mutation_p.A128V	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	219	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GATGCCCAGGGCGTCCAGCAT	0.557000														29			8		0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29151610	29151610	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29151610C>T	uc002hfr.4	-	0	169	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CRLF3_uc010wbr.2_5'UTR	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	20					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GCGCTGCCTCCACGTTCTCGC	0.721000														11			7		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916481	72916481	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72916481G>A	uc002jme.1	-	1	633	c.450C>T	c.(448-450)tgC>tgT	p.C150C	USH1G_uc010wro.1_Silent_p.C47C	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	150					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCTTGGCGCACTCGCGGA	0.672000														21			10		0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996273	34996273	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:34996273G>C	uc011los.2	+	2	800	c.439G>C	c.(439-441)Ggc>Cgc	p.G147R	DNAJB5_uc003zvs.3_Missense_Mutation_p.G109R|DNAJB5_uc003zvt.3_Missense_Mutation_p.G75R	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	75					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAAGACCGGCGGTGGCAC	0.592000														29			7		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614149	3614149	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:3614149G>A	uc010btn.3	-	4	1200	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	263	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGATCCAGATGGAAACTT	0.592000														27			15		0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41919926	41919927	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:41919926_41919927CC>TT	uc003bac.3	+	11	1485_1486	c.1463_1464CC>TT	c.(1462-1464)gcc>gTT	p.A488V		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	488					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GAGACCCATGCCTTTGTCACGT	0.614000														43			27		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136704887	136704887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:136704887G>A	uc011edg.2	-	5	874	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	MAP7_uc011edf.2_Missense_Mutation_p.L172F|MAP7_uc010kgu.3_Missense_Mutation_p.L209F|MAP7_uc011edh.2_Intron|MAP7_uc010kgv.3_Missense_Mutation_p.L209F|MAP7_uc010kgs.3_Missense_Mutation_p.L41F|MAP7_uc011edi.2_Missense_Mutation_p.L41F|MAP7_uc010kgq.2_Missense_Mutation_p.L93F|MAP7_uc003qgz.3_Missense_Mutation_p.L187F|MAP7_uc003qha.2_Intron|MAP7_uc010kgr.2_Missense_Mutation_p.L41F|MAP7_uc010kgt.2_Missense_Mutation_p.L209F	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	187					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)		TATTTCGAAAGATTCATGGTG	0.403000														28			12		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28123281	28123281	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:28123281G>A	uc002dpa.1	-	16	2699	c.2198C>T	c.(2197-2199)cCg>cTg	p.P733L	XPO6_uc002dpb.1_Missense_Mutation_p.P719L|XPO6_uc010vcp.1_Missense_Mutation_p.P733L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	733					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTTGGCCACGGAAGCAGCAA	0.587000														19			7		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737423	28737423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:28737423C>T	uc002kwn.3	-	2	524	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DSC1_uc002kwm.3_Missense_Mutation_p.E88K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	88					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)			CTTTTCCTTTCAGAAGACAAA	0.423000														46			18		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299166	184299166	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184299166C>T	uc003foz.3	+	14	3295	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	953	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGTTTGCATCTTTTGACCTG	0.582000														34			19		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59947127	59947127	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:59947127G>A	uc002izn.3	-	20	3101	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	INTS2_uc002izm.3_Missense_Mutation_p.P1001S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1009					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GCAATGTTGGGATCTGCAATG	0.383000														128			38		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402569	223402569	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:223402569G>A	uc001hnx.3	-	4	1520	c.886C>T	c.(886-888)Cct>Tct	p.P296S	SUSD4_uc001hny.4_Missense_Mutation_p.P296S|SUSD4_uc010puw.2_Missense_Mutation_p.P136S	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	296	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGATAAGAAGGAAACCACTCT	0.522000														114			25		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113386869	113386869	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113386869C>T	uc001tug.3	+	5	1320	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	411	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGTCTCAGATCCCCACCAAGG	0.627000														27			14		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614806	135614806	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:135614806C>T	uc003yup.3	-	5	1342	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ZFAT_uc003yun.3_Missense_Mutation_p.E374K|ZFAT_uc003yuo.3_Missense_Mutation_p.E374K|ZFAT_uc010meh.3_Missense_Mutation_p.E374K|ZFAT_uc010mej.3_Missense_Mutation_p.E324K|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.E374K|ZFAT_uc003yur.3_Missense_Mutation_p.E374K	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562000														49			28		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886972	55886972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:55886972G>A	uc010spo.2	+	0	826	c.826G>A	c.(826-828)Ggt>Agt	p.G276S		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G276R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CATTAATAAAGGTGTGTCAGT	0.358000														46			9		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498219	106498219	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:106498219C>T	uc002tdg.3	+	3	938	c.662C>T	c.(661-663)aCc>aTc	p.T221I	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.T221I	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	221	SH3 3.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						AAGGGGGAGACCATGGAGGTG	0.607000														47			16		0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201588	38201588	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:38201588C>T	uc003aty.3	+	0	475	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	GCAT_uc003atz.3_5'Flank|GCAT_uc003aua.2_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	Homo sapiens H1 histone family, member 0 (H1F0), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	Golgi apparatus|actin cytoskeleton|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					TGCGGCCAAGCCCAAGCGGGC	0.637000														55			16		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78574739	78574739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:78574739C>T	uc001syp.3	+	29	5779	c.5606C>T	c.(5605-5607)tCc>tTc	p.S1869F	NAV3_uc001syo.3_Missense_Mutation_p.S1847F|NAV3_uc010sub.2_Missense_Mutation_p.S1326F|NAV3_uc009zsf.3_Missense_Mutation_p.S678F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1869	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCGTCAGAATCCTCAAGCAGC	0.438000										HNSCC(70;0.22)				62			35		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352358	10352358	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10352358C>T	uc002gmn.3	-	30	4299	c.4188G>A	c.(4186-4188)aaG>aaA	p.K1396K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1396					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						GCTGGGCTAGCTTCTTCCTGA	0.453000														27			5		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939588	72939588	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:72939588G>A	uc001xna.4	+	8	1068	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	RGS6_uc021rvv.1_Missense_Mutation_p.R147Q|RGS6_uc010ttn.2_Missense_Mutation_p.R182Q|RGS6_uc021rvw.1_Missense_Mutation_p.R182Q|RGS6_uc021rvx.1_Missense_Mutation_p.R182Q|RGS6_uc021rvy.1_Missense_Mutation_p.R182Q|RGS6_uc021rvz.1_Missense_Mutation_p.R182Q|RGS6_uc001xmy.4_Missense_Mutation_p.R182Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R182Q|RGS6_uc021rwa.1_Missense_Mutation_p.R182Q|RGS6_uc021rwb.1_Missense_Mutation_p.R182Q|RGS6_uc010ttp.1_Missense_Mutation_p.R113Q|RGS6_uc021rwc.1_Missense_Mutation_p.R43Q|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	182					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|signal transducer activity	p.R182R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGATTGACCGGAAAAAAGAC	0.448000														139			44		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105271375	105271375	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:105271375T>C	uc003dvx.3	+	13	2306	c.1610T>C	c.(1609-1611)cTc>cCc	p.L537P	ALCAM_uc003dvw.2_Missense_Mutation_p.L537P|ALCAM_uc003dvy.3_Missense_Mutation_p.L524P|ALCAM_uc010hpp.3_Missense_Mutation_p.L259P|ALCAM_uc003dvz.3_Missense_Mutation_p.L171P	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	537					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTGGTCTCCTCCTTGCTGCC	0.423000														112			42		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142676	35142676	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:35142676G>A	uc003teq.1	-	18	1987	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTATCAAAACGAACTCTGCGA	0.338000														32			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077049	9077049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9077049G>A	uc002mkp.3	-	2	10601	c.10397C>T	c.(10396-10398)tCt>tTt	p.S3466F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3467	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						TTGGTCTCCAGAGGGCAGAGA	0.498000														38			12		0	0	1	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679914	75679914	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:75679914C>T	uc021xar.1	+	1		c.1_splice	c.e1-1							Homo sapiens microRNA 1324 (MIR1324), microRNA.																		GGAGAACATTCCTGAAGAGGT	0.577000														28			3		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429486	110429486	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:110429486A>T	uc001tps.2	-	1	297	c.132T>A	c.(130-132)caT>caA	p.H44Q	GIT2_uc001tpq.2_Missense_Mutation_p.H44Q|GIT2_uc001tpv.2_Missense_Mutation_p.H44Q|GIT2_uc001tpu.2_Missense_Mutation_p.H44Q|GIT2_uc001tpt.2_Missense_Mutation_p.H44Q|GIT2_uc010sxu.1_Intron|GIT2_uc001tpw.3_Missense_Mutation_p.H44Q|GIT2_uc010sxv.1_Missense_Mutation_p.H44Q	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	44	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTGGGAGATATGGCGCCCTA	0.463000														65			21		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29839791	29839791	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:29839791G>A	uc001iut.1	-	5	1315	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	SVIL_uc001iuu.1_Missense_Mutation_p.H188Y|SVIL_uc009xld.1_Missense_Mutation_p.H188Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	188					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCACCCACATGGAGGGCATAG	0.582000														83			20		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338023	99338023	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:99338023C>T	uc001knw.3	+	2	506	c.297C>T	c.(295-297)tcC>tcT	p.S99S	ANKRD2_uc009xvu.3_Silent_p.S99S	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	99					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCAAGACGTCCCTGGACCTGC	0.657000														16			8		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232595	71232595	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71232595C>T	uc003hfg.1	+	2	370	c.289C>T	c.(289-291)Cct>Tct	p.P97S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	97	Pro-rich.					extracellular region		p.P96L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTCCTCCTCCTTATGGCCC	0.547000														138			42		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4722448	4722448	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:4722448C>T	uc002fzc.3	+	21	2369	c.2243C>T	c.(2242-2244)cCc>cTc	p.P748L	PLD2_uc002fzd.3_Missense_Mutation_p.P748L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	748	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.P748L(6)|p.P748P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGCGGGCACCCCGTCTCGGAG	0.597000														37			18		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547253	28547253	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:28547253G>A	uc003szq.3	+	3	579	c.189G>A	c.(187-189)acG>acA	p.T63T	CREB5_uc003szo.3_Silent_p.T30T|CREB5_uc003szr.3_Silent_p.T56T	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	63					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						CGACCCCAACGAGATTCCTGA	0.517000														159			52		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43886973	43886973	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:43886973C>T	uc001cjk.2	+	11	1710	c.-900_splice	c.e11+1		SZT2_uc009vws.1_Splice_Site_p.P542_splice	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCACCACCCCGGTGAGTAGC	0.542000														32			16		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45801439	45801439	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:45801439G>A	uc002xsm.3	+	11	1496	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	EYA2_uc010ghp.3_Silent_p.V374V|EYA2_uc002xsq.3_Silent_p.V344V	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	374					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACGGCGGCGTGGACTGGATGA	0.607000														73			23		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025874	2025874	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:2025874C>T	uc002cnu.1	+	10	1155	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.V237V|TBL3_uc010bsc.1_Silent_p.V237V|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	351					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCCACGTTGTCGTGGCCTCCA	0.622000														52			27		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814894	88814894	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:88814894C>T	uc010iko.1	+	3	1521	c.1521C>T	c.(1519-1521)atC>atT	p.I507I						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		ACCACCCCATCATGGAGACGC	0.547000														132			54		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333778	35333778	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:35333778G>A	uc001mwd.3	-	3	1120	c.528C>T	c.(526-528)ttC>ttT	p.F176F	SLC1A2_uc021qfx.1_Silent_p.F167F|SLC1A2_uc001mwe.3_Silent_p.F167F|SLC1A2_uc010rev.1_Silent_p.F176F	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	176					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.L175I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGTTTTCAGGGAAGAGATTTC	0.478000														96			62		0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49458805	49458805	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:49458805C>T	uc004dom.3	-	3	197	c.64_splice	c.e3-1	p.E22_splice		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	22					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CACTGGACTCCTTGTGGTAGG	0.413000														4			2		0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18542003	18542003	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18542003C>T	uc002gud.2	-	6	622	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	70						intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GTTTACTTTCCTTGCGTCTTT	0.537000														54			20		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200266	155200266	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:155200266C>T	uc021xge.1	-	22	3850	c.3573G>A	c.(3571-3573)gaG>gaA	p.E1191E	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.E1153E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1191					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTGCCCGGCTCATTCTCAT	0.433000														56			12		0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757656	75757656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:75757656C>T	uc003yal.3	+	4	744	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.H189Y	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	189						extracellular region	peptidase inhibitor activity	p.H189Y(2)		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)			ATGCGCAATTCATACTTGCCA	0.428000														61			17		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232392916	232392916	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:232392916C>T	uc002vry.4	-	1	926	c.816G>A	c.(814-816)agG>agA	p.R272R		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGCAGAGCCCCTGCCCTTGG	0.632000														26			8		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41107522	41107522	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41107522C>T	uc001cfu.1	-	2	541	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	RIMS3_uc001cfv.1_Missense_Mutation_p.E26K	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	26					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCGCAGATTTCACCGCTAATG	0.672000														43			13		0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31695997	31695997	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:31695997G>A	uc003nwp.3	-	3	1175	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	DDAH2_uc003nwq.3_Missense_Mutation_p.R182C	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	182					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ACAACAGTGCGAGGTCCCCCC	0.682000														21			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537394	55537394	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55537394G>A	uc003xsd.1	+	3	1100	c.952G>A	c.(952-954)Gat>Aat	p.D318N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	318					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)			TTCTGAAGATGATATTGAGAA	0.308000														26			8		0	0	1	0	0
CBWD5	220869	broad.mit.edu	37	9	70181995	70181996	+	RNA	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:70181995_70181996CC>TT	uc004afw.3	-	2		c.2116_2117GG>AA						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AACTGTGAATCCTTTGAGACTT	0.381000														106			6		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001257	58001257	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:58001257G>A	uc001sow.1	+	4	948	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DTX3_uc001sov.1_Missense_Mutation_p.R197H|DTX3_uc001sox.1_Missense_Mutation_p.R197H|DTX3_uc001soy.1_Missense_Mutation_p.R197H|ARHGEF25_uc009zpy.3_5'Flank|ARHGEF25_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	204					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ATGTGCGGCCGCTTCTATGGG	0.602000														35			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221805	140221805	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140221805G>A	uc003lhs.2	+	0	899	c.899G>A	c.(898-900)gGa>gAa	p.G300E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G300E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATACGGGAGAAATAGTG	0.413000														49			28		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420145	203420145	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:203420145C>A	uc002uzf.4	+	11	2905	c.1757C>A	c.(1756-1758)tCa>tAa	p.S586*	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	586					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AACCGAAATTCAATTAACTAT	0.448000														66			22		2.21704e-12	2.25013e-12	1	1	0
SLFN11	91607	broad.mit.edu	37	17	33681076	33681076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33681076G>A	uc002hjg.4	-	3	1448	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	SLFN11_uc010ctr.3_Missense_Mutation_p.P401S|SLFN11_uc010ctp.3_Missense_Mutation_p.P401S|SLFN11_uc010ctq.3_Missense_Mutation_p.P401S|SLFN11_uc002hjh.4_Missense_Mutation_p.P401S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	401						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATCCTGGTGGGACTGTATGT	0.343000														40			20		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684067	109684067	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:109684067C>T	uc001tob.3	+	38	5504	c.5385C>T	c.(5383-5385)atC>atT	p.I1795I	ACACB_uc001toc.3_Silent_p.I1795I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.I461I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1795					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAATGACATCACCTTTCGCA	0.557000														56			20		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:61833636C>T	uc001jky.3	-	36	7341	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2335					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						TTACCTTTTTCGATGTGGACT	0.428000														82			34		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381054	108381054	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:108381054C>T	uc001pkk.3	-	5	5291	c.5180G>A	c.(5179-5181)aGa>aAa	p.R1727K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1571K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1539K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1727					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)		TCCTGATTCTCTTACTAAATT	0.458000														60			34		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932869	32932869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:32932869C>T	uc003cff.3	+	3	2236	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	725					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACCGGATCCAGCTGTTTGG	0.542000														31			9		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867879	7867880	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7867879_7867880CC>TT	uc001qtf.3	+	1	261_262	c.183_184CC>TT	c.(181-186)ctccgt>ctTTgt	p.R62C		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	62						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AAGCTTTACTCCGTCGAGAGTC	0.475000														39			24		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48164473	48164473	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:48164473C>T	uc001ngp.4	+	11	2801	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	816	Fibronectin type-III 9.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgttttAGATCCCCCTCCTCC	0.418000														14			6		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108006	46108006	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:46108006A>G	uc003oxy.3	+	1	945	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	229						integral to membrane	hydrolase activity	p.E228*(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTATGGGAAAATCTTAATGTG	0.393000														55			32		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109047785	109047785	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:109047785G>A	uc003dxq.4	-	5	885	c.830C>T	c.(829-831)cCa>cTa	p.P277L	DPPA4_uc011bho.2_Silent_p.S178S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	277						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTGCGGGGGTGGAAAATTGGA	0.473000														26			11		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851480	43851480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43851480G>A	uc010ggz.3	+	1	1264	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	SEMG2_uc002xnk.3_Missense_Mutation_p.E403K|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	403	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.383000														74			32		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302488	102302488	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:102302488T>A	uc001duf.2	-	1	294	c.223A>T	c.(223-225)Aac>Tac	p.N75Y	OLFM3_uc001dug.2_Missense_Mutation_p.N55Y|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	75						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAACACAGGTTTTGTTCTGGA	0.488000														62			37		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894432	145894432	+	Silent	SNP	C	T	T	rs150820698	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:145894432C>T	uc003lod.1	-	0	1245	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	415						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACACCTTCCCCTGTCTCTT	0.403000														21			7		0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009289	213009289	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:213009289G>A	uc001hjq.3	-	1	311	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	68										kidney(1)|large_intestine(1)|lung(1)	3						GCCACTGTTGGGAACAGGCTC	0.453000														91			95		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29476278	29476278	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:29476278C>T	uc003cel.3	+	1	490	c.120C>T	c.(118-120)ccC>ccT	p.P40P	RBMS3_uc010hfq.3_Silent_p.P40P|RBMS3_uc003cek.3_Silent_p.P40P|RBMS3_uc010hfr.3_Silent_p.P40P|RBMS3_uc003cem.3_Silent_p.P39P	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	40						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTCCCAGCCCCAGCACAaaca	0.542000														62			31		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														0			2		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202571546	202571546	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:202571546T>C	uc001gye.3	-	4	786	c.593A>G	c.(592-594)aAg>aGg	p.K198R	SYT2_uc010pqb.2_Missense_Mutation_p.K198R|SYT2_uc009xaf.3_Missense_Mutation_p.K28R	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	198	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.R197Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTTCAGTGTCTTCCGATGGAC	0.522000														134			34		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924775	10924775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:10924775G>A	uc003mzo.3	+	14	1415	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	SYCP2L_uc011din.1_Missense_Mutation_p.M214I|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	373						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAAGCCCATGATTATCAGCT	0.313000														26			7		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380506	78380506	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:78380506C>T	uc001ozl.4	-	31	7347	c.6884G>A	c.(6883-6885)gGc>gAc	p.G2295D	ODZ4_uc001ozk.4_Missense_Mutation_p.G520D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2295					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCGCCCCAGGCCATCGTAGCG	0.607000														32			21		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403833	28403833	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28403833C>T	uc003nli.4	-	1	392	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.E71K	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	71	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TGGCAGAGCTCCTGGAGTCTT	0.552000														56			16		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62278913	62278913	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:62278913A>G	uc003dlb.3	+	29	4988	c.4269A>G	c.(4267-4269)gtA>gtG	p.V1423V	PTPRG_uc003dlc.3_Silent_p.V1394V|PTPRG_uc011bfi.2_Silent_p.V669V|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1423					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCATGACAGTAGACAAAAATG	0.413000														44			23		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568953	11568953	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:11568953C>T	uc002mry.1	-	4	1016	c.636G>A	c.(634-636)caG>caA	p.Q212Q	ELAVL3_uc002mrx.1_Silent_p.Q212Q	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	212					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAGCAGCGCCTGCCCCGTCT	0.632000														54			13		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368931	22368932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22368931_22368932CC>TT	uc010tzu.2	+	0	454_455	c.356_357CC>TT	c.(355-357)gcc>gTT	p.A119V	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	119					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)		ACAGTGATGGCCTTTGACCTCT	0.500000														238			24		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108229371	108229371	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:108229371G>A	uc003dxa.1	-	1	124	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	23	Myosin head-like.					myofibril|myosin filament	ATP binding|actin 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						AGGTCTGACAGATCCATCTTT	0.438000														51			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746144	140746144	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140746144C>T	uc003lju.2	+	0	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F749F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.617000														126			40		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418992	13418992	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:13418992G>A	uc002mwy.3	-	13	2091	c.1855C>T	c.(1855-1857)Ctc>Ttc	p.L619F	CACNA1A_uc010dzc.2_Missense_Mutation_p.L145F|CACNA1A_uc010xnd.2_Missense_Mutation_p.L619F|CACNA1A_uc021ups.1_Missense_Mutation_p.L619F|CACNA1A_uc010xne.2_Missense_Mutation_p.L619F|CACNA1A_uc010dze.2_Missense_Mutation_p.L619F|CACNA1A_uc021upt.1_Missense_Mutation_p.L620F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	620					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)	AGGAAAAGGAGAAACAACAGG	0.537000														35			11		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004894	41004894	+	Silent	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41004894T>G	uc003jmj.4	-	35	4483	c.3993A>C	c.(3991-3993)gcA>gcC	p.A1331A	HEATR7B2_uc003jmi.4_Silent_p.A886A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1331							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAGCCCCGGATGCTGTGTTGC	0.478000														43			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106994241	106994241	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106994241G>A	uc021ser.1	-	232		c.9116C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.463000														200			75		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		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						CACTGAAATTCGTGAGGTGGG	0.443000														218			82		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177333	153177333	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:153177333A>T	uc001fbl.3	+	1	260	c.150A>T	c.(148-150)gaA>gaT	p.E50D	LELP1_uc021ozv.1_Missense_Mutation_p.E50D	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	50	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCATGGGAAAAGTGTCCAG	0.557000														76			53		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497914	20497914	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20497914C>T	uc010bwe.3	+	14	1887	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	ACSM2A_uc002dhf.4_Silent_p.L550L|ACSM2A_uc002dhg.4_Silent_p.L550L|ACSM2A_uc010vay.2_Silent_p.L471L|ACSM2A_uc002dhh.4_Silent_p.L180L|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	550					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						TGTCTTGAACCTGCCCAAGAC	0.493000														211			35		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96224935	96224935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:96224935C>T	uc003kmq.3	+	4	1606	c.896C>T	c.(895-897)gCt>gTt	p.A299V	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.A299V|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.A248V|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	299					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)		ACACATTATGCTTTGCAGGCA	0.398000														46			26		0	0	1	0	0
LOC255025	255025	broad.mit.edu	37	3	94890834	94890834	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:94890834G>A	uc003drn.3	+	2		c.298G>A								Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA.																		AATGGGGGGTGGAAAACAGCC	0.478000														22			6		0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59784572	59784572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59784572C>T	uc002agc.2	+	3	584	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	133										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GGGAGATCTTCGAGGAAGAGT	0.458000														14			6		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010929	108010929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:108010929G>A	uc001tmk.1	+	7	2586	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	BTBD11_uc009zut.1_Missense_Mutation_p.E689K|BTBD11_uc001tmj.3_Missense_Mutation_p.E689K|BTBD11_uc001tml.1_Missense_Mutation_p.E226K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	689						integral to membrane	DNA binding	p.E689K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAACTACTCGGAAACACCCCT	0.612000														85			21		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31288551	31288551	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:31288551C>T	uc010sjy.1	-	17	2526	c.2526G>A	c.(2524-2526)agG>agA	p.R842R						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGTTTGTTTTCCTCCCTCCAG	0.383000														22			11		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270401	28270401	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:28270401A>G	uc009xky.3	-	6	1028	c.930T>C	c.(928-930)tcT>tcC	p.S310S	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Silent_p.S2S|ARMC4_uc001itz.3_Silent_p.S310S|ARMC4_uc010qdu.1_Silent_p.S2S	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	310							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTACCAATTTAGACATATTTT	0.274000														39			12		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553550	39553550	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39553550T>A	uc002hwn.3	-	0	295	c.242A>T	c.(241-243)aAc>aTc	p.N81I	KRT31_uc010cxn.3_Missense_Mutation_p.N81I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	81	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCTCCGCGTTGTCCCGCTC	0.587000														60			39		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285000	58285000	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:58285000C>T	uc002aex.3	-	6	974	c.701G>A	c.(700-702)gGg>gAg	p.G234E	ALDH1A2_uc010ugv.2_Missense_Mutation_p.G213E|ALDH1A2_uc002aey.3_Intron|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G205E|ALDH1A2_uc002aew.3_Missense_Mutation_p.G138E	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	234					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTGATGACCCCGGGAGGAAA	0.478000														78			27		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430903	37430903	+	Missense_Mutation	SNP	G	A	A	rs77379875		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:37430903G>A	uc021ppc.1	+	6	1009	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E304K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACACCTAGGGAAATTACGAG	0.443000														66			22		0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496988	124496988	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:124496988C>A	uc001ugb.3	+	4	1326	c.297C>A	c.(295-297)agC>agA	p.S99R	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.S99R|ZNF664_uc021rfz.1_Missense_Mutation_p.S99R	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCAATTGGAGCTCCCATCTTC	0.398000														68			18		5.3912e-06	5.4399e-06	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973313	29973313	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:29973313C>T	uc004dby.2	+	10	1975	c.1467C>T	c.(1465-1467)atC>atT	p.I489I		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	489	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTGGAGCATCTTTGAGCTGG	0.408000														86			35		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661762	6661762	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6661762G>A	uc001mem.1	-	1	1484	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	361	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAGTCATGGAGGGCTGAT	0.582000														32			22		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	171119	171119	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:171119G>A	uc002fre.2	-	3	508	c.165C>T	c.(163-165)atC>atT	p.I55I	RPH3AL_uc010vpy.2_Silent_p.I55I|RPH3AL_uc021tmx.1_Silent_p.I55I|RPH3AL_uc002frf.2_Silent_p.I55I|RPH3AL_uc010cjl.2_Silent_p.I55I	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	55	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGACCTGCAGGATGGCCTCCA	0.677000														53			21		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609122	609122	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:609122C>T	uc001lqe.3	+	13	3797	c.3666C>T	c.(3664-3666)gcC>gcT	p.A1222A	PHRF1_uc010qwc.2_Silent_p.A1221A|PHRF1_uc010qwd.2_Silent_p.A1220A|PHRF1_uc010qwe.2_Silent_p.A1218A|PHRF1_uc009ybz.1_Silent_p.A1012A|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1222							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTGCCAGCCTTGGGGGAAG	0.697000														11			4		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097817	20097817	+	Missense_Mutation	SNP	G	A	A	rs142352343		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:20097817G>A	uc001bcn.3	-	4	580	c.338C>T	c.(337-339)cCg>cTg	p.P113L	TMCO4_uc001bco.1_Missense_Mutation_p.P113L|TMCO4_uc001bcp.1_Missense_Mutation_p.P113L|TMCO4_uc009vpn.1_Missense_Mutation_p.P113L|TMCO4_uc001bcq.1_Missense_Mutation_p.P113L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	113						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATCACCGTCGGGTCGTCCTT	0.483000														79			37		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43097974	43097974	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43097974C>T	uc011dve.1	+	3	543	c.501C>T	c.(499-501)acC>acT	p.T167T	PTK7_uc003oub.1_Silent_p.T159T|PTK7_uc003ouc.1_Silent_p.T159T|PTK7_uc003oud.1_Silent_p.T159T|PTK7_uc003oue.1_Silent_p.T159T|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Silent_p.T159T	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	159	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCCCACCTACCAATGGT	0.602000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			23		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45826648	45826648	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:45826648G>A	uc010gpt.1	+	19	3062	c.2962_splice	c.e19+1	p.G988_splice	TRPM2_uc002zet.1_Splice_Site_p.G988_splice|TRPM2_uc002zeu.1_Splice_Site_p.G988_splice|TRPM2_uc021wjr.1_Splice_Site|TRPM2_uc002zew.1_Splice_Site_p.G988_splice|TRPM2_uc002zex.1_Splice_Site_p.G774_splice|TRPM2_uc002zey.1_Splice_Site_p.G501_splice	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	988						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						CTACATCGACGGTAGGAGCCG	0.662000														4			5		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3842993	3842993	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3842993C>T	uc002wjw.4	+	4	730	c.558C>T	c.(556-558)gcC>gcT	p.A186A	MAVS_uc002wjx.4_Silent_p.A45A|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	186					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACCTGGCAGCCCTCAGCCCTC	0.587000														37			17		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:234112876C>T	uc010zmo.2	+	24	3146	c.2993C>T	c.(2992-2994)tCc>tTc	p.S998F	INPP5D_uc010zmp.2_Missense_Mutation_p.S997F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1027	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCCTGAGTTCCTTCCCTAAG	0.632000														27			17		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405643	241405643	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241405643C>T	uc002vyw.4	+	8	1834	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	538					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCCAGCCCCCGACCTTCCTC	0.677000														43			21		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395139	154395139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:154395139G>A	uc010jih.1	+	0	1880	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	574					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)			TCTGCAAAAGGAAAAGGAAGA	0.428000														73			18		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371472	240371472	+	Silent	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:240371472T>A	uc010pye.2	+	5	3597	c.3372T>A	c.(3370-3372)ccT>ccA	p.P1124P	FMN2_uc010pyd.2_Silent_p.P1120P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1120	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCTCCTCCCCCTC	0.711000														23			3		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2124231	2124231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:2124231C>T	uc002con.3	+	21	2492	c.2386C>T	c.(2386-2388)Ctc>Ttc	p.L796F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.L796F|TSC2_uc002coo.3_Missense_Mutation_p.L796F|TSC2_uc010uvv.2_Missense_Mutation_p.L759F|TSC2_uc010uvw.2_Missense_Mutation_p.L747F|TSC2_uc002cop.3_Missense_Mutation_p.L596F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	796					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity	p.E793fs*9(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGCAGGGCCTCATCCACCG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					26			8		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158296126	158296126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:158296126C>T	uc003qqv.1	+	3	391	c.218C>T	c.(217-219)tCa>tTa	p.S73L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	73					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGTGGAAATTCAGTGGCTGAC	0.473000														30			21		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109839343	109839343	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:109839343C>T	uc021xqo.1	-	11	821	c.765G>A	c.(763-765)ggG>ggA	p.G255G	COL25A1_uc003hze.1_Silent_p.G255G|COL25A1_uc021xqp.1_Silent_p.G255G|COL25A1_uc003hzg.3_Silent_p.G255G|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Silent_p.G36G	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	255	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCCATTCATCCCTGGAATTC	0.284000														39			14		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203412	56203412	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:56203412G>A	uc002lhj.4	-	4	4221	c.4007C>T	c.(4006-4008)cCc>cTc	p.P1336L	ALPK2_uc002lhk.1_Missense_Mutation_p.P667L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1336							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGTCTGGGTTGGCTGAA	0.502000														71			38		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990594	39990594	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:39990594C>T	uc002xjy.1	-	3	1839	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	539						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCTGCCAGGCCTTCACCTCT	0.652000														39			23		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24987244	24987244	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:24987244C>T	uc001bjm.3	+	9	1574	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	SRRM1_uc010oel.2_Silent_p.S448S|SRRM1_uc009vrh.1_Silent_p.S409S|SRRM1_uc009vri.1_Silent_p.S365S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	450	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAAGAGAATCCCCTTCACCAG	0.323000														65			11		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64148254	64148254	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:64148254G>A	uc001jmc.2	+	2	1158	c.843G>A	c.(841-843)cgG>cgA	p.R281R	ZNF365_uc001jly.4_Silent_p.R296R|ZNF365_uc001jmb.4_Silent_p.R281R|ZNF365_uc001jlz.4_Silent_p.R281R|ZNF365_uc001jma.4_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTTACAGCGGGTAGAACTGG	0.557000														41			15		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48018165	48018166	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:48018165_48018166CC>AT	uc002rwd.4	+	1	512_513	c.360_361CC>AT	c.(358-363)atccgc>atATgc	p.R121C	MSH6_uc002rwc.2_Missense_Mutation_p.R121C|MSH6_uc010fbj.3_5'UTR|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	121	PWWP.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAACATTCATCCGCGAGAAAGG	0.475000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					80			43		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094978	150094978	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150094978G>T	uc003whf.1	+	2	1534	c.1409G>T	c.(1408-1410)gGt>gTt	p.G470V	LOC728743_uc003whg.3_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCACACGGGTGAGCGGCCC	0.701000														21			8		0.0477658	0.0478269	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157985162	157985162	+	Missense_Mutation	SNP	C	T	T	rs146516476		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:157985162C>T	uc003wno.3	-	4	527	c.406G>A	c.(406-408)Gag>Aag	p.E136K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E119K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E136K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E98K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E159K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	136						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E136K(2)		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)		TACCTCCTCTCGCTGCCAACG	0.632000														65			27		0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027275	94027275	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:94027275C>A	uc003kkr.4	+	18	2506	c.2426C>A	c.(2425-2427)aCa>aAa	p.T809K	ANKRD32_uc003kks.3_Missense_Mutation_p.T173K	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	809										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GCAGGAGAAACAGCCCTGCAT	0.353000														21			6		8.12818e-05	8.18576e-05	1	1	0
AMTN	401138	broad.mit.edu	37	4	71398177	71398177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71398177C>T	uc003hfk.1	+	8	714	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	AMTN_uc010ihy.1_Nonsense_Mutation_p.Q208*	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	209					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGGAATTCAGTAAGCTGT	0.284000														26			5		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115664	52115664	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:52115664C>T	uc002pxe.3	-	8	1615	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	492					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCCAGGGCTTCTTCCTGGAAC	0.483000														80			30		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322600	5322600	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5322600G>A	uc010qza.2	-	0	577	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	193					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)		GGATATATGTGATTAAACGTG	0.393000														30			21		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523306	24523306	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24523306T>C	uc001wlj.2	+	2	302	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	49										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCCCTGACCTCCTGGCGCCT	0.617000														58			16		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591852	124591852	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:124591852A>C	uc001lgs.3	-	10	2717	c.1766T>G	c.(1765-1767)gTg>gGg	p.V589G	CUZD1_uc001lgp.3_Missense_Mutation_p.V308G|CUZD1_uc009yad.3_Missense_Mutation_p.V308G|CUZD1_uc009yaf.3_Missense_Mutation_p.V223G|CUZD1_uc001lgr.3_Missense_Mutation_p.V308G|CUZD1_uc010qty.2_Missense_Mutation_p.V308G|CUZD1_uc009yae.3_Missense_Mutation_p.V308G|CUZD1_uc010qtz.2_Missense_Mutation_p.V589G	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	589					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAATGCCTCACTGTGATTGT	0.443000														153			65		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268954	100268954	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100268954G>A	uc021xqi.1	-	1		c.153C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCTCAATGGAAAAGGGTTT	0.393000														53			22		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224711	158224711	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:158224711C>T	uc003ipm.4	+	2	696	c.237C>T	c.(235-237)tcC>tcT	p.S79S	GRIA2_uc011cit.2_Silent_p.S32S|GRIA2_uc021xtr.1_Silent_p.S79S|GRIA2_uc003ipl.4_Silent_p.S79S|GRIA2_uc003ipk.4_Silent_p.S32S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	79					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGTCTGCTCCCAGTTTTCGA	0.343000														62			21		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41047823	41047823	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41047823C>T	uc003jmj.4	-	17	2218	c.1728_splice	c.e17+1	p.Q576_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.Q131_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	576							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCAGCCTTACCTGAAGCAGCA	0.353000														9			6		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887679	9887679	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:9887679G>A	uc002koi.4	+	1	1652	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	TXNDC2_uc002koh.4_Silent_p.E334E|TXNDC2_uc021ugx.1_Silent_p.E334E	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	401	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						CACCCAAGGAGATTGACATCC	0.562000														78			33		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42769569	42769569	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:42769569T>C	uc002yzf.1	+	7	1204	c.1100T>C	c.(1099-1101)gTt>gCt	p.V367A	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.V90A|MX2_uc010gop.1_5'Flank	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	367					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGCCACGGTTCCCCGACTG	0.502000														36			15		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673478	75673478	+	Silent	SNP	C	T	T	rs1050120		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:75673478C>T	uc001jwa.3	+	6	788	c.642C>T	c.(640-642)atC>atT	p.I214I	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.I197I|PLAU_uc010qkx.2_Silent_p.I128I|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.I214I|PLAU_uc009xrq.1_Silent_p.I178I	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	214	Peptidase S1.		I -> M.		blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCAGCCTCATCAGCCCTTGCT	0.607000														73			37		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414392	26414392	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26414392A>C	uc001isn.2	+	18	2329	c.1969A>C	c.(1969-1971)Act>Cct	p.T657P	MYO3A_uc009xko.1_Missense_Mutation_p.T657P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	657	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGTGTGGTCACTAGAGGAGA	0.418000														55			20		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464579	17464579	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:17464579T>C	uc003zmz.2	+	20	3512	c.3486T>C	c.(3484-3486)agT>agC	p.S1162S	CNTLN_uc003zmy.3_Silent_p.S1163S|CNTLN_uc010mio.3_Silent_p.S842S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1163						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTTGGAAAGTAACAAGAGTT	0.284000														38			29		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554272	28554272	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28554272C>T	uc003nlo.3	-	0	841	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	75	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGGCAAAGTTCCCGCAGTTGA	0.542000														74			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586714	179586714	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179586714C>T	uc021vsy.1	-	74	19169	c.18944G>A	c.(18943-18945)gGa>gAa	p.G6315E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2976E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7242	Ig-like 44.						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)			TGTATAGTTTCCTCCAGGACG	0.418000														149			51		0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246498703	246498703	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:246498703G>A	uc001ibl.3	-	2	427	c.302C>T	c.(301-303)tCc>tTc	p.S101F	SMYD3_uc001ibk.3_Missense_Mutation_p.S42F	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	101						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q101*(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGTCGAACGGAGTCTGGAGG	0.398000														152			33		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112294	18112294	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:18112294T>A	uc021veh.1	+	0	19	c.19T>A	c.(19-21)Ttc>Atc	p.F7I	KCNS3_uc002rcv.3_Missense_Mutation_p.F7I|KCNS3_uc002rcw.3_Missense_Mutation_p.F7I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	7					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.F7F(1)		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)					TGGTGAGTTTTTCCATCGCCC	0.522000														70			30		0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450746	114450746	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:114450746C>T	uc001eeg.3	+	2	765	c.471C>T	c.(469-471)tcC>tcT	p.S157S	DCLRE1B_uc001eeh.3_Silent_p.S31S|DCLRE1B_uc001eei.3_Silent_p.S31S	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	157					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TTCTTCCTTCCCGACAAGAAG	0.473000								Other identified genes with known or suspected DNA repair function						88			29		0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921396	82921396	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:82921396C>T	uc010rsv.1	+	3	807	c.385C>T	c.(385-387)Cct>Tct	p.P129S	ANKRD42_uc009yvi.2_Missense_Mutation_p.P129S|ANKRD42_uc001ozz.1_Missense_Mutation_p.P101S|ANKRD42_uc001paa.3_Missense_Mutation_p.P129S|ANKRD42_uc001pab.1_Missense_Mutation_p.P129S			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	101										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGATGCACTCCTTTACATCT	0.398000														57			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209086	140209086	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140209086G>A	uc003lho.2	+	0	1437	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.P470P|PCDHAC2_uc011dab.2_Silent_p.P470P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	484	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCGGGCTGCCACA	0.662000														46			29		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96448000	96448000	+	Silent	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96448000C>G	uc001kjv.4	+	2	776	c.450C>G	c.(448-450)cgC>cgG	p.R150R	CYP2C19_uc001kjw.4_Silent_p.R150R|CYP2C19_uc009xus.1_Silent_p.R15R|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	150			R -> H (in allele CYP2C19*11; dbSNP:rs58973490).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R150S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGGAAGCCCGCTGCCTTGTGG	0.418000														99			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735572	140735572	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140735572C>T	uc003ljq.2	+	0	805	c.805C>T	c.(805-807)Cca>Tca	p.P269S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P269S	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	269	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACTGATCCAGATGAAGG	0.468000														20			7		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602495	18602495	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:18602495C>T	uc002dfg.3	+	7	893	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ABCC6P1_uc010vam.2_Silent_p.F174F					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CTGAGCCCTTCCTACGGCAAG	0.577000														27			6		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842648	169842648	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:169842648C>T	uc002ueo.1	-	9	1181	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	352	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma 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)	TGTATATTCTCCTTCATCCAG	0.443000														24			10		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602847	5602847	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5602847C>T	uc010qzi.2	+	0	741	c.741C>T	c.(739-741)ctC>ctT	p.L247L	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCCGCCTCCTTTCTCAAG	0.502000														106			72		0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824278	94824278	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:94824278C>T	uc010qns.2	+	3	846	c.846C>T	c.(844-846)tcC>tcT	p.S282S	CYP26C1_uc009xud.3_Intron	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	282					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				ATGAGCCCTCCATGCAGGAGC	0.587000														45			20		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13948082	13948082	+	Missense_Mutation	SNP	G	A	A	rs149935102		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:13948082G>A	uc003wwq.3	-	7	1469	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SGCZ_uc010lss.3_Missense_Mutation_p.S223L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	257					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGAGCTGGGTGAAGAAGATGA	0.418000														52			17		0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878639	15878639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:15878639C>T	uc002gpd.1	+	1	1314	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_000676	NP_000667	P29275	AA2BR_HUMAN	Homo sapiens adenosine A2b receptor (ADORA2B), mRNA.	328					JNK cascade|activation of MAPK activity|cellular defense response|excretion	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ACAGCCTGCTCTCGGTGTGGG	0.488000														83			26		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127680179	127680179	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:127680179G>A	uc003kuu.3	-	24	3680	c.3241C>T	c.(3241-3243)Cct>Tct	p.P1081S	FBN2_uc003kuv.2_Missense_Mutation_p.P1048S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1081	EGF-like 15; calcium-binding.				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)		CACATCCCAGGAAATGCTTTG	0.403000														90			19		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371295	83371295	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:83371295C>T	uc004eej.2	-	12	986	c.950_splice	c.e12-1	p.G317_splice	RPS6KA6_uc011mqt.2_Splice_Site_p.G317_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.G214_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	317	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						TCCTTCTGATCCtataaaaaa	0.294000														8			4		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239680	134239680	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:134239680C>T	uc003yub.3	+	4	937	c.831C>T	c.(829-831)taC>taT	p.Y277Y	WISP1_uc003yuc.3_Silent_p.Y190Y|WISP1_uc010meb.3_Silent_p.Y105Y|WISP1_uc010mec.3_Missense_Mutation_p.P126S|WISP1_uc010med.3_Silent_p.Y32Y|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	277	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.Y277H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|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)			TGGCTGTGTACCAGCCAGAGG	0.537000														58			15		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667097	72667097	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:72667097G>A	uc011mqk.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACGATGTACGGAAGCTGTCTT	0.577000														25			23		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029462	93029462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:93029462G>A	uc022axs.1	-	2	582	c.395C>T	c.(394-396)cCg>cTg	p.P132L	RUNX1T1_uc003yfc.2_Missense_Mutation_p.P46L|RUNX1T1_uc010mam.3_Missense_Mutation_p.P46L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.P36L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.P73L|RUNX1T1_uc022axo.1_Missense_Mutation_p.P73L|RUNX1T1_uc010mao.3_Missense_Mutation_p.P46L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.P84L|RUNX1T1_uc022axp.1_Missense_Mutation_p.P73L|RUNX1T1_uc022axq.1_Missense_Mutation_p.P73L|RUNX1T1_uc022axr.1_Missense_Mutation_p.P73L|RUNX1T1_uc022axt.1_Missense_Mutation_p.P73L|RUNX1T1_uc022axu.1_Missense_Mutation_p.P53L|RUNX1T1_uc022axv.1_Missense_Mutation_p.P73L|RUNX1T1_uc003yfb.2_Missense_Mutation_p.P36L|RUNX1T1_uc003yff.1_Missense_Mutation_p.P36L|RUNX1T1_uc003yfg.2_Missense_Mutation_p.P36L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	73	TAFH.				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)			ACACGTTGTCGGTGTAAATGA	0.388000														66			25		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43100175	43100175	+	Silent	SNP	G	C	C	rs61739218	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43100175G>C	uc011dve.1	+	6	1044	c.1002G>C	c.(1000-1002)ccG>ccC	p.P334P	PTK7_uc003oub.1_Silent_p.P326P|PTK7_uc003ouc.1_Silent_p.P326P|PTK7_uc003oud.1_Silent_p.P326P|PTK7_uc003oue.1_Silent_p.P326P|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.P2P|PTK7_uc003oua.3_Silent_p.P326P	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	326	Ig-like C2-type 4.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AAGACATGCCGCTATTTGAGC	0.577000														72			17		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52950208	52950208	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:52950208G>A	uc003dgf.3	-	14	2061	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	SFMBT1_uc010hmr.3_Missense_Mutation_p.H427Y|SFMBT1_uc003dgg.3_Missense_Mutation_p.H480Y|SFMBT1_uc003dgh.3_Missense_Mutation_p.H480Y	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	480					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGGCCCTCGTGGACAGTCCTC	0.403000														41			15		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026057	32026057	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:32026057G>C	uc003nzl.2	-	21	7805	c.7603C>G	c.(7603-7605)Cct>Gct	p.P2535A		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2595	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGAGTCAGGGGAGGATCCT	0.677000														30			11		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674919	9674919	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:9674919C>A	uc010vvb.2	-	5	838	c.825G>T	c.(823-825)atG>atT	p.M275I	DHRS7C_uc010cof.3_Missense_Mutation_p.M274I	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	275						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTTGGCCATAAACACCT	0.587000														19			5		0.217242	0.217381	1	1	0
COL6A5	256076	broad.mit.edu	37	3	130187686	130187686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:130187686C>T	uc010htj.1	+	37	7332	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.P319S|COL6A5_uc010htk.1_Missense_Mutation_p.P319S	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2280	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACTTATGAACCTGGAGATGT	0.368000														16			5		0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004285	70004285	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70004285C>T	uc001svc.3	-	0	658	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	112						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGGGGAGGTCGCAGAGTTTG	0.572000														34			14		0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33457354	33457354	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:33457354G>A	uc002hix.3	+	3	958	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	292										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		ACCCCATCCAGATCACCGTGC	0.532000														52			18		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184633212	184633212	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184633212C>T	uc021xik.1	+	26	2420	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	VPS8_uc003fpb.1_Missense_Mutation_p.R776W|VPS8_uc010hyd.1_Missense_Mutation_p.R686W|VPS8_uc010hye.1_Missense_Mutation_p.R205W	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	778							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCTTACATTCGGACTTTGCT	0.348000														27			17		0	0	1	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58079654	58079654	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:58079654G>A	uc002iyf.2	-	3	292	c.57C>T	c.(55-57)ttC>ttT	p.F19F						Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		TAATGACTCTGAATTTGGTAA	0.338000														108			32		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822407	26822407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26822407G>A	uc001iss.3	+	8	1174	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	APBB1IP_uc009xks.1_Missense_Mutation_p.E285K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	285					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGAAAGCAAGGAAACTAATGA	0.333000														27			7		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254700	30254700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:30254700C>T	uc002kxm.1	-	8	2195	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	603						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACATCTCCTTCGAGTTCTGTC	0.473000														142			58		0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106221338	106221338	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:106221338G>A	uc004emu.4	-	7	1303	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.S343F|MORC4_uc004emw.4_Missense_Mutation_p.S91F	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	343							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCTCAAAAGATTTTATGAG	0.383000														98			62		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92965055	92965055	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:92965055G>A	uc022bzw.1	+	2	1074	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FAM133A_uc022bzu.1_Missense_Mutation_p.E213K|FAM133A_uc004efr.2_Missense_Mutation_p.E213K|FAM133A_uc022bzv.1_Missense_Mutation_p.E213K|FAM133A_uc022bzx.1_Missense_Mutation_p.E213K	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	213	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GAGAAGGTGTGAAGAGCGAGA	0.358000														16			9		0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100992431	100992431	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:100992431G>A	uc001voo.3	+	17	1667	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	PCCA_uc010aga.3_Missense_Mutation_p.E495K|PCCA_uc010tiz.2_Missense_Mutation_p.E521K	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	521					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AACCAAGAGTGAGAAGAACCA	0.348000														25			15		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65563312	65563312	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:65563312G>A	uc002aoq.3	-	1	527	c.273C>T	c.(271-273)tcC>tcT	p.S91S	PARP16_uc002aoo.3_Silent_p.S91S|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	91	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGACCTTTGAGGATAAAATCC	0.527000														233			107		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558854	129558854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:129558854C>T	uc009zyl.1	-	8	3194	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	TMEM132D_uc001uia.2_Missense_Mutation_p.E494K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	956						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)		CTCATCCCTTCCTGCTCCTCG	0.458000														98			47		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914509	51914509	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51914509G>A	uc002pwo.3	-	10	2160	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	SIGLEC10_uc002pwp.3_Silent_p.F588F|SIGLEC10_uc021uyl.1_Silent_p.F468F|SIGLEC10_uc002pwq.3_Silent_p.F493F|SIGLEC10_uc010ycz.2_Silent_p.F503F|SIGLEC10_uc002pws.2_Silent_p.F403F|SIGLEC10_uc002pwr.3_Silent_p.F551F|SIGLEC10_uc010ycy.2_Silent_p.F461F|SIGLEC10_uc010eow.3_Silent_p.F363F	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	646					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGGTTCTGGGAAACTGGGCA	0.547000														130			40		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238401	21238401	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21238401G>A	uc021ron.1	+	0	92	c.92G>A	c.(91-93)aGa>aAa	p.R31K	EDDM3B_uc001vyd.3_Missense_Mutation_p.R31K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	31					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTTTCTTGGAGAGAATTCATG	0.438000														45			15		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90503044	90503044	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:90503044G>A	uc010qmv.2	+	7	926	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	309					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTGATTGGGGAAACTCTGAT	0.333000														6			3		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343025	79343025	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:79343025G>A	uc003hlb.2	+	33	4989	c.4549G>A	c.(4549-4551)Gag>Aag	p.E1517K	FRAS1_uc003hkw.3_Missense_Mutation_p.E1517K|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1516					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						AGGTATCATCGAGCACCGGGA	0.532000														150			59		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522183	113522183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:113522183C>T	uc010ljy.1	-	2	908	c.877G>A	c.(877-879)Gac>Aac	p.D293N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	293					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTCCTTGTCCTCATGAGAA	0.318000														55			16		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433863	49433863	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49433863T>G	uc001rta.4	-	30	7690	c.7690A>C	c.(7690-7692)Agc>Cgc	p.S2564R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2564	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCAAAATGGCTGTTGATCCCA	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			12		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121119	124121119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:124121119G>A	uc001pzx.3	+	0	697	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CTCCACTGAGGGCAGGTCCAA	0.468000														63			35		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968512	118968512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:118968512G>A	uc003ksm.2	+	1	350	c.140G>A	c.(139-141)gGg>gAg	p.G47E	FAM170A_uc003ksl.2_Missense_Mutation_p.G47E|FAM170A_uc003ksn.3_Missense_Mutation_p.G47E|FAM170A_uc003kso.3_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	47						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TGGAGCCAAGGGGTGGGAGAA	0.532000														44			13		0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181846925	181846925	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:181846925T>C	uc002unq.1	+	2	375	c.156T>C	c.(154-156)tcT>tcC	p.S52S	UBE2E3_uc002unr.1_Silent_p.S52S|UBE2E3_uc010fri.1_Silent_p.S52S	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	52					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CCAAACTCTCTAGCAAAACCA	0.483000														72			25		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739037	3739037	+	Silent	SNP	C	T	T	rs138259541	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3739037C>T	uc010xhv.2	+	11	1635	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	TJP3_uc010xhs.2_Silent_p.P512P|TJP3_uc010xht.2_Silent_p.P476P|TJP3_uc010xhu.2_Silent_p.P521P|TJP3_uc010xhw.2_Silent_p.P531P	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	526	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGGCCCCGGGCAGAGCC	0.682000														43			17		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9783763	9783763	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9783763C>T	uc003bse.3	+	5	2308	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F	BRPF1_uc003bsf.3_Missense_Mutation_p.L637F|BRPF1_uc003bsg.3_Missense_Mutation_p.L637F|BRPF1_uc011ati.2_Missense_Mutation_p.L637F	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	637	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCATCCTCCTTCGCAAAAC	0.512000														37			13		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411898	105411898	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:105411898G>T	uc010axc.1	-	6	10010	c.9890C>A	c.(9889-9891)gCc>gAc	p.A3297D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A3197D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3297						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCGGCCAGGGACAG	0.622000														166			61		2.01871e-26	2.05953e-26	1	1	0
HMGB4	127540	broad.mit.edu	37	1	34330332	34330332	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34330332G>A	uc021oky.1	+	0	540	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.G180G|HMGB4_uc001bxq.3_Silent_p.G106G	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTGCAGAGGGAAAAGAGTCA	0.453000														32			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453568	82453568	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82453568G>A	uc003uhx.2	-	18	14869	c.14580C>T	c.(14578-14580)ttC>ttT	p.F4860F	PCLO_uc003uhv.2_Silent_p.F4860F|PCLO_uc003uht.1_Silent_p.F302F|PCLO_uc003uhu.1_Silent_p.F281F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4722					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						ATGGGTCAGGGAAGATACCAT	0.388000														18			7		0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38916981	38916981	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:38916981A>G	uc002rqy.3	+	3	831	c.579A>G	c.(577-579)gaA>gaG	p.E193E		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	193					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				atgaccatgaagtcaccatag	0.383000														45			13		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867813	207867813	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:207867813G>A	uc001hga.4	+	4	700	c.579G>A	c.(577-579)ggG>ggA	p.G193G	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	193	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGCAGAGGGAAAAAGGTGT	0.502000														131			101		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37695333	37695333	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:37695333C>T	uc003arf.3	+	5	536	c.420C>T	c.(418-420)ctC>ctT	p.L140L	CYTH4_uc003are.2_Silent_p.L140L|CYTH4_uc011amw.2_Silent_p.L83L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	140	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.L140L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACCTCAACCTCGTCCAGGCCC	0.662000														20			9		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547576	44547576	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:44547576G>A	uc002ruc.4	+	9	1934	c.1856G>A	c.(1855-1857)aGa>aAa	p.R619K	PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Missense_Mutation_p.R341K|SLC3A1_uc002rue.4_Missense_Mutation_p.R239K	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	619					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCTAAAATGAGAATAAGGTTA	0.408000														71			33		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37195974	37195974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:37195974G>A	uc011cpa.1	-	20	4028	c.3797C>T	c.(3796-3798)tCc>tTc	p.S1266F	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S341F|C5orf42_uc011cpb.1_Missense_Mutation_p.S147F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1266										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTCTAATGGAAACTTCATC	0.368000														46			11		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226711	30226711	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:30226711A>T	uc002hgr.3	-	1	214	c.131T>A	c.(130-132)aTc>aAc	p.I44N	UTP6_uc010wbw.1_Missense_Mutation_p.I44N	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	44					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCTTCTCTGGATTTTGTACTC	0.303000														22			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10424676	10424676	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10424676G>A	uc010coi.3	-	39	5875	c.5747C>T	c.(5746-5748)gCt>gTt	p.A1916V	AK097500_uc002gml.1_Intron|MYH1_uc002gmo.3_5'Flank|MYH2_uc002gmp.4_Missense_Mutation_p.A1916V|MYH2_uc010coj.3_Missense_Mutation_p.A683V	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1916					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						AGCAATGTCAGCCCGTTCCTC	0.488000														124			61		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926885	43926885	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43926885G>A	uc002xnn.2	-	6	1538	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	MATN4_uc002xnp.2_Missense_Mutation_p.R369C|MATN4_uc002xno.2_Missense_Mutation_p.R410C|MATN4_uc010zwr.1_Missense_Mutation_p.R399C|MATN4_uc002xnr.1_Missense_Mutation_p.R451C	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	492	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCCAACACGAGGCACGTTA	0.662000														52			21		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219360507	219360507	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:219360507A>G	uc010fvs.1	-	13	1861	c.1448T>C	c.(1447-1449)gTt>gCt	p.V483A	USP37_uc002vie.2_Missense_Mutation_p.V483A|USP37_uc010zkf.1_Missense_Mutation_p.V483A|USP37_uc002vif.2_Missense_Mutation_p.V483A|USP37_uc002vig.2_Missense_Mutation_p.V411A	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	483					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGTGCTGAACCTCAAACTC	0.363000														39			16		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465898	160465898	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160465898G>A	uc001fwe.2	-	1	405	c.335C>T	c.(334-336)tCc>tTc	p.S112F	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.S112F|SLAMF6_uc010pjh.2_Missense_Mutation_p.S63F|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.S63F	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	112						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGTCTTTGTGGATATCTGGGC	0.428000														148			33		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	T	T	rs58649169	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557000														52			9		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:72190946G>A	uc002atl.4	-	24	4371	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_uc010biq.3_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.3_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000														94			40		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316872	203316872	+	Missense_Mutation	SNP	C	T	T	rs145322178		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:203316872C>T	uc001gzr.3	-	1	663	c.527G>A	c.(526-528)cGa>cAa	p.R176Q		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	176					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCAGGGATCGAGGCAGGGG	0.597000														102			75		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007100	56007100	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:56007100A>G	uc003tra.2	+	6	1540	c.733A>G	c.(733-735)Aat>Gat	p.N245D	ZNF713_uc003trc.1_Missense_Mutation_p.N232D	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAAATCTTCAATCAACATAT	0.398000														58			11		0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018704	58018704	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:58018704C>T	uc002qox.3	+	3	1381	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	ZNF773_uc002qoy.3_Missense_Mutation_p.P413L|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	414					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)		GGAGCAAAGCCTTATGAGTGC	0.413000														103			32		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14562718	14562718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:14562718G>A	uc002myp.3	+	6	1216	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	PKN1_uc002myq.3_Missense_Mutation_p.G356R	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	350	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTCAATGGGGGGACCTGGGAC	0.677000														23			4		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48468505	48468505	+	Silent	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48468505T>A	uc001rqx.3	-	6	1070	c.624A>T	c.(622-624)atA>atT	p.I208I	SENP1_uc001rqw.3_Silent_p.I208I|SENP1_uc001rqy.3_Silent_p.I9I|SENP1_uc001rqz.3_Silent_p.I9I|SENP1_uc009zkx.3_Silent_p.I208I	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	208					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGGGTTTGGCTATAGTAAACT	0.323000														13			7		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762804	105762804	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:105762804G>C	uc001kxo.1	+	8	1902	c.1868G>C	c.(1867-1869)aGt>aCt	p.S623T	SLK_uc001kxp.1_Missense_Mutation_p.S623T	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	623	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAATAAACAGTTCAGAGAAC	0.388000														29			10		0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29272068	29272068	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29272068G>A	uc010csk.3	+	5	951	c.672G>A	c.(670-672)ggG>ggA	p.G224G	ADAP2_uc002hfy.3_Silent_p.G218G|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.G218G	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	218	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAAAGTGGGAAGGTGAGAT	0.592000														22			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466079	179466079	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179466079A>C	uc021vsy.1	-	235	48166	c.47941T>G	c.(47941-47943)Tat>Gat	p.Y15981D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y9676D|TTN_uc021vta.1_Missense_Mutation_p.Y9609D|TTN_uc021vtb.1_Missense_Mutation_p.Y9484D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16908	Fibronectin type-III 16.						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)			CGGAAGAAATATTGCTGTTCA	0.453000														42			18		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796397	42796397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:42796397C>T	uc003osn.1	+	5	477	c.326C>T	c.(325-327)tCc>tTc	p.S109F	KIAA0240_uc003osm.1_Missense_Mutation_p.S109F|KIAA0240_uc011duw.1_Missense_Mutation_p.S109F|KIAA0240_uc003oso.1_Missense_Mutation_p.S109F|KIAA0240_uc003osp.1_Missense_Mutation_p.S109F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	109										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CTTCAGAAATCCTTGCAAGAG	0.453000														87			47		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374302	95374302	+	RNA	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:95374302T>C	uc003dro.1	-	4		c.1560A>G								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GGAATGTCAGTTCGCTTAATT	0.448000														62			24		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29383308	29383308	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:29383308C>T	uc002rmv.3	+	11	1748	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	CLIP4_uc002rmu.3_Silent_p.F503F|CLIP4_uc010ezm.1_Silent_p.F503F|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	503										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CCATTAGGTTCTTTGGGACAA	0.418000														82			34		0	0	1	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718825	1718825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:1718825C>T	uc001lua.3	+	0	401	c.350C>T	c.(349-351)gCc>gTc	p.A117V	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	117						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTCCCAGGCCAGCTGCTGT	0.587000														74			51		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232663	71232663	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71232663C>T	uc003hfg.1	+	2	438	c.357C>T	c.(355-357)ttC>ttT	p.F119F	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	119	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCATTTTTCCCTGTAAATT	0.512000														69			42		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43308569	43308569	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43308569C>T	uc003oux.3	-	8	3532	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1152					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACATGTTGCTCCCCAGAAATT	0.413000														130			33		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402698	124402699	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:124402698_124402699CC>TT	uc001lgk.1	+	52	7132_7133	c.7026_7027CC>TT	c.(7024-7029)ttccgg>ttTTgg	p.R2343W	DMBT1_uc001lgl.1_Missense_Mutation_p.R2333W|DMBT1_uc001lgm.1_Missense_Mutation_p.R1715W|DMBT1_uc021qaf.1_Missense_Mutation_p.R2343W|DMBT1_uc021qag.1_Missense_Mutation_p.R2333W|DMBT1_uc021qah.1_Missense_Mutation_p.R1715W|DMBT1_uc009xzz.1_Missense_Mutation_p.R2342W|DMBT1_uc010qtx.1_Missense_Mutation_p.R1063W|DMBT1_uc009yab.1_Missense_Mutation_p.R1046W|DMBT1_uc009yac.1_Missense_Mutation_p.R637W	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2343	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R2343W(1)|p.R2472W(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGCCCGCTTCCGGTTCAGGGC	0.589000														56			36		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212435	113212435	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113212435C>T	uc010mtz.3	-	23	4344	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	SVEP1_uc010mua.1_Missense_Mutation_p.G1336E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1336	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G1336G(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCCAAAAATCCAGGTGGGCA	0.458000														127			126		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201464445	201464445	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:201464445G>A	uc002uvx.3	+	4	513	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	138					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCCACTCTGGATCAGTTAAC	0.433000														37			20		0	0	1	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716843	13716843	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:13716843G>A	uc009vnz.1	+	1	360	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	110										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTTGATGGGAATTTCTGGA	0.537000														82			36		0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622362	29622362	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29622362C>T	uc002hgj.3	-	1	1201	c.988G>A	c.(988-990)Gct>Act	p.A330T	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Missense_Mutation_p.A330T	NM_002544	NP_002535	P23515	OMGP_HUMAN	Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA.	330					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GGCACAAAAGCCTTATCAGTG	0.423000														163			54		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812564	109812564	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:109812564A>G	uc001dxa.4	+	22	7178	c.7117A>G	c.(7117-7119)Atc>Gtc	p.I2373V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2373					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAATGGGGAGATCCTGCCACT	0.612000														71			25		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382101	135382101	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:135382101G>A	uc003lbf.4	+	3	537	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	126	FAS1 1.		Missing (associated with Leu-124 in atypical granular dystrophy; French granular variant).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCGCACGGAGAAGCTGAG	0.612000														32			8		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5041226	5041226	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:5041226C>T	uc010xim.2	+	3	504	c.396C>T	c.(394-396)atC>atT	p.I132I	KDM4B_uc010xil.1_Silent_p.I132I|KDM4B_uc002mbq.4_Silent_p.I132I	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	132					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.P131L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTCCCCGATCTACGGGGCTG	0.557000														98			29		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428583	190428583	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:190428583C>T	uc002uqp.4	-	6	1480	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	377					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGTGCCAATCCTGAGATCAGA	0.448000														36			28		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762474	24762474	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:24762474A>G	uc001iru.4	+	5	1567	c.1164A>G	c.(1162-1164)agA>agG	p.R388R	KIAA1217_uc001irs.3_Silent_p.R308R|KIAA1217_uc001irt.4_Silent_p.R388R|KIAA1217_uc010qcy.2_Silent_p.R388R|KIAA1217_uc010qcz.2_Silent_p.R388R|KIAA1217_uc001irv.1_Silent_p.R238R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.R106R|KIAA1217_uc001irz.3_Silent_p.R106R|KIAA1217_uc001irx.3_Silent_p.R106R|KIAA1217_uc001iry.3_Silent_p.R106R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	388					embryonic skeletal system development	cytoplasm		p.R388I(1)		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						CAATGTACAGAAATGAGGGTT	0.488000														97			28		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414414	26414414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26414414G>A	uc001isn.2	+	18	2351	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	MYO3A_uc009xko.1_Missense_Mutation_p.R664Q|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	664	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R664*(1)|p.R664R(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACAATTATACGACCCAATACT	0.423000														75			29		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140967032	140967032	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:140967032G>A	uc011mwp.2	+	2	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	110										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGAGGGGAAGTTTTCTC	0.562000														5			9		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924388	70924388	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:70924388C>T	uc021rvq.1	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S	ADAM21_uc001xmd.3_Missense_Mutation_p.P58S	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	58					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)		TGCAAAGGCTCCTGGATGGCT	0.537000														156			14		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91730267	91730267	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:91730267C>T	uc003ulg.3	+	44	11219	c.10994C>T	c.(10993-10995)tCt>tTt	p.S3665F	AKAP9_uc003ulf.3_Missense_Mutation_p.S3657F|AKAP9_uc003uli.3_Missense_Mutation_p.S3288F|AKAP9_uc003ulj.3_Missense_Mutation_p.S1435F|AKAP9_uc003ull.3_Missense_Mutation_p.S561F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3669					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCCAGAAATCTTTGAAAAGG	0.393000			T	BRAF	papillary thyroid									61			25		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10227434	10227434	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10227434G>A	uc002gmk.1	-	22	2929	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	MYH13_uc010vve.1_Silent_p.L45L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	947					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TTATCTTCCAGATTCCTCTTC	0.453000														39			14		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:30371683C>T	uc002wwp.1	+	11	2070	c.1372C>T	c.(1372-1374)Cat>Tat	p.H458Y	TPX2_uc010gdv.1_Missense_Mutation_p.H494Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000														97			37		0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38883394	38883394	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:38883394G>A	uc003xmr.3	+	9	1065	c.987G>A	c.(985-987)ggG>ggA	p.G329G	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	329	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACGCAGGCGGGATTAATGTGG	0.393000														108			33		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508081	149508081	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:149508081C>T	uc010lpk.3	+	65	9466	c.9466C>T	c.(9466-9468)Cgt>Tgt	p.R3156C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3159					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGTGGTTCGTCCATGTGA	0.602000														22			8		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111958967	111958967	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:111958967C>T	uc001eba.3	-	9	1190	c.1134G>A	c.(1132-1134)ttG>ttA	p.L378L	OVGP1_uc001eaz.3_Silent_p.L340L|OVGP1_uc010owb.2_Silent_p.L26L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	378					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)		GGATATCATTCAATACGTAGA	0.542000														43			23		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809328	23809328	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:23809328G>A	uc003sws.4	+	12	1733	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	STK31_uc003swt.4_Missense_Mutation_p.E533K|STK31_uc011jze.2_Missense_Mutation_p.E556K|STK31_uc010kuq.3_Missense_Mutation_p.E533K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	556							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			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						TGAAATCCTAGAGAAGACTGA	0.378000														108			46		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116055804	116055804	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:116055804A>G	uc001lbn.3	-	18	2755	c.2454T>C	c.(2452-2454)agT>agC	p.S818S	AFAP1L2_uc001lbo.3_Silent_p.S814S|AFAP1L2_uc010qse.2_Silent_p.S871S|AFAP1L2_uc001lbp.3_Silent_p.S842S|AFAP1L2_uc001lbm.3_Silent_p.S257S|AFAP1L2_uc010qsd.2_Silent_p.S380S|AFAP1L2_uc001lbq.1_3'UTR	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	818					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TTGTTTTCTAACTTGCTCCTT	0.418000														117			41		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226808	149226808	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:149226808C>T	uc002twm.4	+	8	2293	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	432						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCTTCAACCTCCCTGTCCC	0.493000														65			42		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246487	233246487	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:233246487G>A	uc002vsq.3	+	10	1755	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	530						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTGCTGGAGACGGCCACTG	0.736000														3			3		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985064	33985064	+	Splice_Site	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:33985064C>A	uc001bxm.1	-	70	11126	c.10949_splice	c.e70+1		CSMD2_uc001bxn.1_Splice_Site	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							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)				CCCCTGCTCACCGGCTGCTGG	0.657000														22			7		6.5536e-12	6.6471e-12	1	1	0
PSG3	5671	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	T	T	rs1058692		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43376039C>T	uc002ovd.1	-	2	727	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E197K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E197K|PSG3_uc002ovb.3_Missense_Mutation_p.E197K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	197	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		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)				CTGTTGGTTTCGGACAGCTTC	0.527000														330			129		0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307976	20307976	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:20307976A>G	uc002nou.2	+	3	514	c.457A>G	c.(457-459)Ata>Gta	p.I153V		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGAGCAAAATATTTCAATG	0.294000														62			19		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1656720	1656720	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:1656720G>A	uc021xkk.1	-	3	1065	c.867C>T	c.(865-867)ttC>ttT	p.F289F	FAM53A_uc010ibw.3_Silent_p.F289F|FAM53A_uc021xkl.1_Silent_p.F289F	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	289						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCATTTTCAGGAAGTCCAAGG	0.617000														34			7		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719594	81719594	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:81719594G>A	uc001szo.2	-	21	2765	c.2604C>T	c.(2602-2604)ctC>ctT	p.L868L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.L794L|PPFIA2_uc021rbh.1_Silent_p.L769L|PPFIA2_uc021rbi.1_Silent_p.L868L|PPFIA2_uc021rbj.1_Silent_p.L868L|PPFIA2_uc021rbk.1_Silent_p.L850L|PPFIA2_uc021rbl.1_Silent_p.L868L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.L435L|PPFIA2_uc021rbf.1_Silent_p.L85L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	794										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGAGTTCCGAGTTTGCCTA	0.388000														24			6		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9260155	9260155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:9260155C>T	uc001qvk.1	-	7	957	c.844G>A	c.(844-846)Gat>Aat	p.D282N	A2M_uc009zgk.1_Missense_Mutation_p.D132N	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	282					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCTGTGAATCTTCACCGTGG	0.438000														53			10		0	0	1	0	0
ARMC10	83787	broad.mit.edu	37	7	102738975	102738975	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:102738975T>G	uc003vaw.2	+	6	1399	c.1007T>G	c.(1006-1008)gTt>gGt	p.V336G	ARMC10_uc003vay.2_Missense_Mutation_p.V277G|ARMC10_uc003vax.2_Missense_Mutation_p.V301G|ARMC10_uc003vbb.2_Missense_Mutation_p.V242G|ARMC10_uc011kli.2_Missense_Mutation_p.V277G|ARMC10_uc010lis.2_Missense_Mutation_p.V218G	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	336					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAGGAAAAGGTTGTAACAATA	0.363000														123			21		0	0	1	0	0
SCG5	6447	broad.mit.edu	37	15	32988793	32988793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:32988793G>A	uc001zha.2	+	5	739	c.622G>A	c.(622-624)Gat>Aat	p.D208N	SCG5_uc001zgz.2_Missense_Mutation_p.D207N	NM_001144757	NP_001138229	P05408	7B2_HUMAN	Homo sapiens secretogranin V (7B2 protein) (SCG5), transcript variant 1, mRNA.	208					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	GTP binding|enzyme inhibitor activity|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TTCAGATGAGGATAAGGATCC	0.413000														12			4		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506402	11506402	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:11506402G>A	uc001qzw.1	-	3	669	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	273	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGGAGATTGGGAACTTCGGGA	0.617000														296			28		0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132590527	132590527	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:132590527G>A	uc004byp.3	-	8	855	c.783C>T	c.(781-783)tcC>tcT	p.S261S	C9orf78_uc004byo.3_Missense_Mutation_p.P176L	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	261										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GGTTAGGAGGGGACCCTGAGA	0.483000														33			47		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284643	52284643	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52284643C>T	uc001rzd.3	+	4	1091	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.L180L|ANKRD33_uc001rze.3_Silent_p.L201L|ANKRD33_uc001rzg.4_Silent_p.L107L|ANKRD33_uc001rzi.4_Silent_p.L180L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	180										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGGGGTGTTCTGGACCACCT	0.657000														26			7		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273212	139273212	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:139273212G>A	uc004chh.3	-	20	3076	c.3067C>T	c.(3067-3069)Ctc>Ttc	p.L1023F		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1023	Pro-rich.				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)		GACTGTCCGAGACCACTCTCG	0.711000														3			5		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129946646	129946647	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:129946646_129946647GG>AA	uc003vpr.3	+	6	658_659	c.611_612GG>AA	c.(610-612)agg>aAA	p.R204K	CPA4_uc011kpd.2_Missense_Mutation_p.R171K|CPA4_uc011kpe.2_Missense_Mutation_p.R100K	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	204					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GATTACCAGAGGGATCCAGCTA	0.436000														45			23		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94352981	94352981	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:94352981G>A	uc001pfa.3	+	17	2435	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	742	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.E742K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTCTTTACCGAAATGAACCG	0.433000														28			14		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074934	106074934	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:106074934G>A	uc001kyf.3	-	2	1329	c.876C>T	c.(874-876)tcC>tcT	p.S292S	ITPRIP_uc001kye.3_Silent_p.S292S|ITPRIP_uc001kyg.3_Silent_p.S292S|ITPRIP_uc021pxv.1_Silent_p.S292S	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	292						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCAGGTACAGGGAATCTGTGG	0.602000														36			14		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138669938	138669938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:138669938C>T	uc011mwn.1	-	24	2900	c.2894G>A	c.(2893-2895)aGa>aAa	p.R965K	MCF2_uc004fav.3_Missense_Mutation_p.R836K|MCF2_uc004fau.3_Missense_Mutation_p.R820K|MCF2_uc010nsh.2_Missense_Mutation_p.R820K|MCF2_uc011mwm.2_Missense_Mutation_p.R781K|MCF2_uc011mwl.2_Missense_Mutation_p.R797K|MCF2_uc011mwo.1_Missense_Mutation_p.R896K|MCF2_uc004faw.2_Missense_Mutation_p.R880K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	820					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	Rho guanyl-nucleotide exchange factor activity|protein binding			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)					CTGTTGCTTTCTTTTTTTAAC	0.348000														42			19		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76936816	76936816	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:76936816C>T	uc002lmx.3	+	7	796	c.782C>T	c.(781-783)tCg>tTg	p.S261L	ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.S261L|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	261					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.S261L(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTCCAAGGTTCGTGTTTTATT	0.463000														49			21		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957396	50957396	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50957396C>T	uc002psf.2	+	16	1920	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	623	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCACCAACCCCGTCGGCGAGG	0.632000														15			6		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142890	31142890	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:31142890C>T	uc003tca.2	+	13	1375	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	ADCYAP1R1_uc003tcg.3_Silent_p.F390F|ADCYAP1R1_uc003tce.2_Silent_p.F389F|ADCYAP1R1_uc003tcb.2_Silent_p.F341F|ADCYAP1R1_uc003tcc.2_Silent_p.F390F|ADCYAP1R1_uc003tcf.1_Silent_p.F120F	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	362					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCCCACTATTCGGAATCCACT	0.582000														91			42		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55087331	55087331	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55087331G>A	uc010ern.3	+	6	1479	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	LILRA1_uc002qgg.4_Missense_Mutation_p.G337E|LILRA1_uc002qgf.3_Missense_Mutation_p.G337E|LILRA1_uc010yfe.1_Missense_Mutation_p.G337E|LILRA1_uc010yff.1_Missense_Mutation_p.G325E|LILRA1_uc010ero.3_Missense_Mutation_p.G325E|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	339	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)		GTAGCCCCAGGAAAGAACGTG	0.592000														46			17		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655091	3655091	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:3655091C>T	uc002fwo.4	-	14	1845	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	582					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCCCATAGCCGCCATGGCAA	0.567000														58			24		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733748	92733748	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:92733748G>A	uc003umf.3	-	2	1933	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	SAMD9_uc003umg.3_Missense_Mutation_p.P555S|SAMD9_uc022ahg.1_Missense_Mutation_p.P555S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	555						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAATGAGGGGATCTCTTGGG	0.403000														82			40		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275839	64275839	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:64275839C>T	uc002amr.3	-	2	238	c.207G>A	c.(205-207)gaG>gaA	p.E69E	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.E59E	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	69	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCTCGATCTCCTCCCGGCTCA	0.627000														41			19		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11420586	11420586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:11420586G>A	uc003wty.3	+	11	1860	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	BLK_uc003wua.3_Missense_Mutation_p.E263K	NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	427	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTCCTGATGGAAGTTGTCAC	0.627000														30			11		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137810	54137810	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54137810G>A	uc002qcf.1	+	1	105	c.54G>A	c.(52-54)agG>agA	p.R18R		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATTCACACAGGAAACGAACCA	0.443000														116			41		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129120669	129120669	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:129120669C>T	uc011koy.2	+	18	2028	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	FAM40B_uc003vow.3_Missense_Mutation_p.S663F|FAM40B_uc011koz.2_Missense_Mutation_p.S155F	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	663										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACCTCTTTTCCTGCATCAAC	0.448000														94			23		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207243705	207243705	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:207243705C>T	uc001hfg.3	+	11	1282	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	PFKFB2_uc010psc.2_Silent_p.H293H|PFKFB2_uc001hfh.3_Silent_p.H391H|PFKFB2_uc009xcc.3_Silent_p.H349H|PFKFB2_uc010psd.2_Silent_p.H205H	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	391	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCATCTCCCACCAGGCTGTCA	0.612000														29			13		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247612	50247612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50247612C>T	uc002ppm.3	-	7	1248	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	413							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCCCAGCCCCTCCAGTTCG	0.587000														39			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22690278	22690278	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22690278G>A	uc010ajo.1	+	0	191	c.153G>A	c.(151-153)ctG>ctA	p.L51L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajn.1_Silent_p.L79L					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		ATGGAAGACTGACTGCTCAGT	0.463000														73			38		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920029	196920029	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196920029G>A	uc001gtq.1	+	2	378	c.301G>A	c.(301-303)Gga>Aga	p.G101R	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	101	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGAATCTTCAGGACAAACACA	0.363000														83			20		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047574	73047574	+	RNA	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73047574A>C	uc004ebn.2	+	0		c.35535A>C			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTGACCCAAAAAGGAGACATG	0.388000														7			2		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594893	50594893	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50594893C>T	uc010qgq.2	-	3	261	c.261G>A	c.(259-261)caG>caA	p.Q87Q	DRGX_uc021pqd.1_Silent_p.Q82Q	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	87					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCCTTCTGTTCTGGAACCAAA	0.552000														165			59		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038151	34038151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34038151C>T	uc001bxm.1	-	49	7894	c.7717G>A	c.(7717-7719)Gac>Aac	p.D2573N	CSMD2_uc001bxn.1_Missense_Mutation_p.D2575N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2575	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCCTGTGTCCAGACACTCT	0.597000														95			27		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11071014	11071014	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11071014G>A	uc010hdq.3	+	11	1710	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	433					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)	TCTCCTACCTGATCGGTCTCT	0.597000														22			10		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108618424	108618424	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:108618424A>T	uc002tdv.3	+	5	945	c.669A>T	c.(667-669)aaA>aaT	p.K223N	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.K223N|SLC5A7_uc010ywn.2_Missense_Mutation_p.K110N	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	223					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)	TGCATGCCAAATACCAAAAGC	0.478000														53			16		0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572106	101572106	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:101572106C>T	uc003dvp.3	+	4	851	c.736C>T	c.(736-738)Cct>Tct	p.P246S	NFKBIZ_uc003dvo.3_Missense_Mutation_p.P146S|NFKBIZ_uc010hpo.3_Missense_Mutation_p.P146S|NFKBIZ_uc003dvq.3_Intron	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.V245V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CGTGGTGGTCCCTCAGAGCTC	0.527000														97			34		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253704	134253704	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:134253704G>C	uc001qhq.3	-	3	752	c.491C>G	c.(490-492)cCg>cGg	p.P164R	B3GAT1_uc001qhr.3_Missense_Mutation_p.P164R|B3GAT1_uc010scv.1_Missense_Mutation_p.P177R	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	164					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGTGCCCCGCGGGATGCGTGG	0.711000														6			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579150	82579150	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82579150G>A	uc003uhx.2	-	5	11043	c.10754C>T	c.(10753-10755)tCt>tTt	p.S3585F	PCLO_uc003uhv.2_Missense_Mutation_p.S3585F|PCLO_uc010lec.3_Missense_Mutation_p.S550F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3516					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						TTTGGGTGGAGATGTGGCACT	0.473000														49			28		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575911	43575911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43575911G>A	uc002ovr.3	-	3	1077	c.905C>T	c.(904-906)tCt>tTt	p.S302F	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	302	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTTACGAACAGAGCAAACATA	0.458000														267			103		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455232	90455232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90455232C>T	uc003pnn.1	-	27	4134	c.4018G>A	c.(4018-4020)Gaa>Aaa	p.E1340K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1340					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAACATTTTCTTTGGAGAAA	0.358000														81			27		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578700	44578700	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:44578700G>A	uc003tlb.3	-	1	1352	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	NPC1L1_uc011kbw.2_Silent_p.F432F|NPC1L1_uc003tlc.3_Silent_p.F432F|NPC1L1_uc003tld.3_Silent_p.F432F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	432					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.F432V(1)		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)	GGATTCCGCTGAAGTTCTTGG	0.597000														39			18		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676809	37676809	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:37676809G>A	uc002ofq.3	-	4	1882	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H358Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTTTCTGA	0.383000														69			23		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968115	87968115	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:87968115C>T	uc003plm.4	+	7	4809	c.4768C>T	c.(4768-4770)Cct>Tct	p.P1590S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGTTCATTTCCTAATTCTGG	0.378000														22			11		0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	C	C	rs61754468	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73811938G>C	uc004ebu.3	-	4	1502	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_uc004ebw.3_Silent_p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(12)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000														88			5		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269466	34269466	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:34269466G>C	uc001wru.3	+	11	2017	c.1953G>C	c.(1951-1953)gaG>gaC	p.E651D	NPAS3_uc001wrs.3_Missense_Mutation_p.E638D|NPAS3_uc001wrv.3_Missense_Mutation_p.E621D|NPAS3_uc001wrt.3_Missense_Mutation_p.E619D	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCAAGACGGAGATCTCAGAAC	0.632000														33			21		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536457	37536457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:37536457G>A	uc002xje.3	+	8	1096	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E261K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	303					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)				AGACCTGTGCGAGGAGGAAGA	0.592000														39			10		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030689	154030689	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:154030689C>T	uc001fdw.3	-	21	3055	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.E995K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	995						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTCTATTTCAACCTAGTAG	0.373000														103			29		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917175	97917175	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:97917175C>A	uc001klp.3	+	5	1953	c.1096C>A	c.(1096-1098)Caa>Aaa	p.Q366K	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.Q366K|ZNF518A_uc001klr.3_Missense_Mutation_p.Q366K	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCATGTTGTTCAAGAGCATTT	0.388000														14			6		3.59834e-05	3.62616e-05	1	1	0
TP53TG5	27296	broad.mit.edu	37	20	44003923	44003923	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:44003923C>T	uc002xny.3	-	3	605	c.524G>A	c.(523-525)aGg>aAg	p.R175K	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	175					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GAGTGGTTGCCTCCCCTGGAC	0.547000														108			37		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554658	19554658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:19554658G>A	uc003cbk.1	+	12	2471	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E	KCNH8_uc010hex.1_Missense_Mutation_p.G220E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	759						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTGGCCTCGGGAACGGTGCCC	0.502000														67			26		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021859	96021859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:96021859C>T	uc004ati.1	+	10	3029	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L	WNK2_uc011lud.1_Missense_Mutation_p.P1010L|WNK2_uc004atj.3_Missense_Mutation_p.P1010L|WNK2_uc004atk.3_Missense_Mutation_p.P647L|WNK2_uc010mrc.1_Missense_Mutation_p.P958L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1010					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						CCCCACCTTCCTGAACAAGCT	0.677000														5			2		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55971599	55971599	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:55971599G>A	uc002adg.3	-	6	1066	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	340	Ig-like 4.				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)		GTGCCAGCTCGAGGCCTTGTT	0.388000														62			23		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936581	40936581	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:40936581G>A	uc003jmh.3	+	4	536	c.422G>A	c.(421-423)gGa>gAa	p.G141E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	141	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAACTTACTGGAAATGGGTAA	0.403000														15			6		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937178	21937178	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:21937178C>T	uc010tzj.1	-	0		c.3562G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CGACCACAAACAATTCATCTC	0.408000														222			30		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965476	88965476	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:88965476A>G	uc011khi.2	+	3	3718	c.3180A>G	c.(3178-3180)caA>caG	p.Q1060Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1060						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)			GTGAAATCCAACCTTTTATTC	0.363000										HNSCC(36;0.09)				55			24		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71571180C>T	uc021tkt.1	+	0	600	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_uc002fan.3_Silent_p.I200I|CHST4_uc002fao.3_Silent_p.I200I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	200					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|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						ACCTGCATATCGTGCACCTGG	0.607000														40			15		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680357	95680357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:95680357G>A	uc003ygq.4	+	9	1295	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E	ESRP1_uc003ygr.4_Missense_Mutation_p.G371E|ESRP1_uc003ygs.4_Missense_Mutation_p.G371E|ESRP1_uc003ygt.4_Missense_Mutation_p.G371E|ESRP1_uc003ygu.4_Missense_Mutation_p.G371E|ESRP1_uc003ygv.3_Missense_Mutation_p.G211E|ESRP1_uc003ygw.3_Missense_Mutation_p.G211E	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	371	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGCCAACAGGGGACGCTTTT	0.483000														57			19		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162623	29162623	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:29162623C>T	uc002hfs.1	+	1	1867	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	ATAD5_uc002hft.1_Silent_p.F405F	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	508					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAACCTTTTTCTTAAAAGAGA	0.299000														42			18		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65249267	65249267	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:65249267C>T	uc001xht.3	-	18	4058	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	SPTB_uc001xhr.3_Missense_Mutation_p.G1336E|SPTB_uc001xhs.3_Missense_Mutation_p.G1336E|SPTB_uc001xhu.3_Missense_Mutation_p.G1336E|SPTB_uc010aqi.3_5'UTR	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1336					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)		CAGCTGCTTTCCTTCCTAGGG	0.587000														113			39		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29012589G>A	uc003nlw.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)|p.R122S(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000														45			13		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45053174	45053174	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:45053174G>A	uc002zdi.3	-	4	752	c.420C>T	c.(418-420)gtC>gtT	p.V140V	HSF2BP_uc011aey.2_Silent_p.V65V	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	140					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGGCCTTGACGACTTCCTCAC	0.473000														50			26		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928102	38928102	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:38928102C>T	uc002hvf.3	-	0	310	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	88	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGTTGAGATTCTGCATGGTCA	0.547000														102			35		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120935521	120935521	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:120935521T>G	uc003vjq.4	+	22	3343	c.2896T>G	c.(2896-2898)Tat>Gat	p.Y966D		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	966						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCCAAAGAATATAACTTTAT	0.318000														26			7		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369190	78369190	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:78369190G>A	uc001ozl.4	-	33	8686	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F	ODZ4_uc001ozk.4_Silent_p.F966F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2741					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAGAGATCACGAAAAAGCCGT	0.602000														88			53		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162441	48162441	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:48162441C>A	uc002efc.1	-	8	1790	c.1444G>T	c.(1444-1446)Gcc>Tcc	p.A482S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.A482S	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	482	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A482D(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGCCAGTGGCTCCCTTGGCT	0.512000														67			30		1.80694e-10	1.83035e-10	1	1	0
KCMF1	56888	broad.mit.edu	37	2	85276756	85276756	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:85276756A>G	uc002sox.4	+	5	1213	c.869A>G	c.(868-870)cAg>cGg	p.Q290R		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	290						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CAGAATTCCCAGTTTCTTTTA	0.368000														19			6		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612232	16612232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16612232G>A	uc002gqk.1	+	4	937	c.861G>A	c.(859-861)tgG>tgA	p.W287*	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	287								p.W287*(1)									AATTAGAGTGGAAAAACCAAT	0.373000														35			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175466	140175466	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140175466G>A	uc003lhd.2	+	0	1023	c.917G>A	c.(916-918)gGa>gAa	p.G306E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G306E|PCDHAC2_uc011czy.2_Missense_Mutation_p.G306E	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	321	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACTAAGGGAAAATTAGAT	0.403000														54			26		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390795	52390795	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:52390795C>T	uc001jjf.1	+	1		c.1488C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		GGTAAAAATTCCTTTATCTGC	0.488000														23			4		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764565	184764565	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:184764565G>A	uc001gra.3	-	13	2527	c.2333C>T	c.(2332-2334)cCc>cTc	p.P778L	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	778	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGGGCCTCGGGACAGGGAGG	0.632000														323			68		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653301	110653301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:110653301C>T	uc004epd.3	-	1	741	c.569G>A	c.(568-570)gGa>gAa	p.G190E	DCX_uc011msv.2_Missense_Mutation_p.G190E|DCX_uc004epe.3_Missense_Mutation_p.G109E|DCX_uc004epf.3_Missense_Mutation_p.G109E|DCX_uc004epg.3_Missense_Mutation_p.G109E	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	190	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						CTTCCTGGATCCATCAATGGT	0.498000														55			44		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70189094	70189094	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70189094G>A	uc001svp.3	+	5	1353	c.906G>A	c.(904-906)gtG>gtA	p.V302V	RAB3IP_uc021rao.1_Silent_p.V286V|RAB3IP_uc001svm.3_Silent_p.V286V|RAB3IP_uc001svn.3_Silent_p.V286V|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.V302V|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Silent_p.V80V	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	302					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTCAGTGTGATACAGCCAA	0.443000														29			10		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30001110	30001110	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:30001110T>G	uc002dvc.2	+	16	3246	c.2429T>G	c.(2428-2430)aTg>aGg	p.M810R	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	689	Glu-rich.				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						ATCTCAGAGATGCTCAGCTCA	0.592000														21			12		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43999855	43999855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:43999855C>T	uc002zbj.3	+	18	2513	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	SLC37A1_uc002zbi.3_Missense_Mutation_p.R511C	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	511					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GTTCCTGATCCGCCTCATACA	0.647000														36			6		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177937035	177937035	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:177937035G>A	uc001glj.1	-	6	948	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.R28W|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.R28W	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	28					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCATCTCTCCGAAACCCTCGG	0.577000														33			27		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712223	21712223	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21712223C>T	uc002djh.3	+	9	856	c.855C>T	c.(853-855)atC>atT	p.I285I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.I206I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	285					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGCTGTTTATCAGCTATGACA	0.552000														45			24		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52811720	52811720	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:52811720C>T	uc003dfs.3	+	0	119	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	30					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCTGGGCTCGGCTACAGGC	0.622000														31			14		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829475	38829475	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:38829475A>G	uc010ifg.2	-	1	1741	c.1620T>C	c.(1618-1620)ttT>ttC	p.F540F	TLR6_uc003gtm.3_Silent_p.F540F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	540	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTTTGACAAATTCTCTTA	0.433000														306			110		0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699447	140699447	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140699447G>A	uc003ljg.3	-	0	905	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	55					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTCTGACGATTCCATGAC	0.438000														51			24		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217148305	217148305	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:217148305G>A	uc002vgb.3	-	1	2431	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	222						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCTGCAGAGGATTTTTTGTG	0.572000														63			16		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24228681	24228681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:24228681C>T	uc011mjv.2	+	9	1972	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	ZFX_uc004dbd.2_Missense_Mutation_p.R536C|ZFX_uc004dbf.3_Missense_Mutation_p.R536C|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.R536C|ZFX_uc010nfx.2_Missense_Mutation_p.R307C|ZFX_uc010nfz.3_Missense_Mutation_p.R192C	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GTTATTGAATCGCCACCTCTT	0.423000														75			62		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034168	150034168	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:150034168C>T	uc003wgz.4	+	0	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRRC61_uc003wgv.3_Missense_Mutation_p.S73F|LRRC61_uc003wgx.3_Missense_Mutation_p.S73F|LRRC61_uc003wgw.3_Missense_Mutation_p.S73F	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	73										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGCTGGCCTCCTTGCGCCAG	0.652000														44			23		0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116528214	116528214	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:116528214C>T	uc003vil.3	+	1	176	c.73C>T	c.(73-75)Cct>Tct	p.P25S	CAPZA2_uc003vik.1_Non-coding_Transcript|CAPZA2_uc011knk.2_Non-coding_Transcript	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	25					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CATTCATGCCCCTCCTGGAGA	0.343000														43			9		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216500975	216500975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216500975C>T	uc001hku.1	-	4	1193	c.806G>A	c.(805-807)aGa>aAa	p.R269K	USH2A_uc001hkv.3_Missense_Mutation_p.R269K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	269					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)		ATCTTGCATTCTTCCGACAAA	0.368000										HNSCC(13;0.011)				116			30		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11181421	11181421	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:11181421G>A	uc001asd.3	-	48	6936	c.6815C>T	c.(6814-6816)gCt>gTt	p.A2272V	MTOR_uc001asc.3_Missense_Mutation_p.A477V	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2272	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.A2272S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAGTCCGGAGCCATCTGCAT	0.532000														34			17		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268141	103268141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:103268141C>T	uc004elr.3	-	0	116	c.92G>A	c.(91-93)gGa>gAa	p.G31E		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	31					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.G31A(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGAGGAAGGTCCAGCCATGGC	0.612000														24			10		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711244	12711244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12711244G>A	uc001auf.3	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	91						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGTGGTGACCGACCTGCGTTT	0.498000														45			35		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480109	10480109	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10480109C>T	uc003wtc.3	-	1	832	c.603G>A	c.(601-603)ggG>ggA	p.G201G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	201					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTACCTTTTTCCCGCTGGTCG	0.478000														155			47		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96131740	96131740	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:96131740G>A	uc001tei.3	-	2	1217	c.768C>T	c.(766-768)ttC>ttT	p.F256F	NTN4_uc009ztf.3_Silent_p.F256F|NTN4_uc009ztg.3_Silent_p.F219F	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	256	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCTTGACAATGAAATCATAGA	0.488000														35			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330067	138330067	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:138330067C>A	uc002tva.1	+	15	3274	c.3274C>A	c.(3274-3276)Ctt>Att	p.L1092I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		GTCCTGTTCTCTTATGTGTCC	0.458000														26			13		7.03913e-09	7.11188e-09	1	1	0
LDHD	197257	broad.mit.edu	37	16	75148085	75148085	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:75148085G>A	uc002fdm.3	-	5	729	c.677C>T	c.(676-678)cCt>cTt	p.P226L	LDHD_uc002fdn.3_Intron	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GGACACACAAGGTGAGTACCA	0.637000														131			24		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409759	19409759	+	RNA	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:19409759T>G	uc010tcj.1	-	0		c.36351A>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ACAGTTCCACTTTCCAGTGGA	0.388000														96			8		0	0	1	0	0
ADORA2B	136	broad.mit.edu	37	17	15878164	15878164	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:15878164G>A	uc002gpd.1	+	1	839	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_000676	NP_000667	P29275	AA2BR_HUMAN	Homo sapiens adenosine A2b receptor (ADORA2B), mRNA.	169					JNK cascade|activation of MAPK activity|cellular defense response|excretion	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCTGCCTTGTGAAGTGTCTCT	0.478000														47			12		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227876983	227876983	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:227876983C>T	uc021vxr.1	-	43	4348	c.4247G>A	c.(4246-4248)aGg>aAg	p.R1416K	COL4A4_uc021vxs.1_Missense_Mutation_p.R1413K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1416	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)		CACACCCCTCCTGCCATCCAG	0.562000														31			11		0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302655	87302655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:87302655G>A	uc003dqp.4	+	4	786	c.526G>A	c.(526-528)Gga>Aga	p.G176R	CHMP2B_uc011bgn.2_Missense_Mutation_p.G135R	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	176					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGAAATTTCTGGAAAGGTATG	0.348000														17			7		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649482	20649482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:20649482G>A	uc001ytg.3	-	17	2736	c.2027C>T	c.(2026-2028)tCt>tTt	p.S676F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.S676F|HERC2P3_uc010tyy.2_Missense_Mutation_p.S676F					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCACCCACCAGAGTCGTCCTC	0.562000														59			33		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307833	113307834	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113307833_113307834GG>AA	uc010syl.2	+	9	1147_1148	c.785_786GG>AA	c.(784-786)cgg>cAA	p.R262Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R262Q|RPH3A_uc001tty.3_Missense_Mutation_p.R258Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R258Q|RPH3A_uc010sym.2_Missense_Mutation_p.R213Q|RPH3A_uc001tua.3_Missense_Mutation_p.R22Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	262	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)		GACTCCAGCCGGAGCCCAGCAG	0.545000														28			8		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868835	7868835	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7868835G>A	uc001qtf.3	+	3	447	c.369_splice	c.e3+1	p.K123_splice		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	123						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGGGAGTTAAGGTAAGTATAA	0.303000														12			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347592	113347592	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:113347592G>A	uc003ynu.3	-	44	7290	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F	CSMD3_uc003yns.3_Silent_p.F1579F|CSMD3_uc003ynt.3_Silent_p.F2337F|CSMD3_uc011lhx.2_Silent_p.F2273F|CSMD3_uc003ynw.1_Silent_p.F88F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2377	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTGTTGTGAAATCACTGT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			8		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374794	48374794	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:48374794G>A	uc002phr.2	-	5	916	c.776C>T	c.(775-777)aCa>aTa	p.T259I		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	259					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTGGGCCACTGTGAAGTGATT	0.483000														66			25		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50169132C>T	uc002ppa.3	+	0	734	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	18					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)		TTTGGGTTTCCGGCCAGAGGC	0.577000														42			20		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138550983	138550983	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:138550983C>T	uc003qhu.3	+	4	585	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	138					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCTGAAGATCGCGGAGGTGA	0.483000														19			3		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538314	31538314	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:31538314C>T	uc011acv.2	-	0	658	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	208					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTTCGCTTATCTGTGTGTGGC	0.453000														63			15		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423421	56423421	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56423421A>C	uc010ygg.2	-	4	1787	c.1762T>G	c.(1762-1764)Ttc>Gtc	p.F588V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	588							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGACCAAAGAAGAACAGAACC	0.403000														92			34		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075510	106075510	+	Silent	SNP	G	A	A	rs138082433	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:106075510G>A	uc001kyf.3	-	2	753	c.300C>T	c.(298-300)atC>atT	p.I100I	ITPRIP_uc001kye.3_Silent_p.I100I|ITPRIP_uc001kyg.3_Silent_p.I100I|ITPRIP_uc021pxv.1_Silent_p.I100I	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	100						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCACACCTCGATCATCAGGA	0.687000														77			22		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747769	143747769	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143747769T>A	uc011ktw.2	+	0	275	c.275T>A	c.(274-276)aTc>aAc	p.I92N		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92N(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGAAAAACAATCTCCTTTGTC	0.428000														144			70		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:44508548C>T	uc002ruc.4	+	2	711	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_uc002rty.3_Silent_p.F211F|SLC3A1_uc002rtz.2_Silent_p.F211F|SLC3A1_uc002rua.3_Silent_p.F211F|SLC3A1_uc002rub.2_Silent_p.F211F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000														37			20		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395765	100395765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:100395765G>A	uc003pqh.1	-	2	580	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	MCHR2_uc003pqi.1_Missense_Mutation_p.L89F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGGTGAATAAGAAAAGGCATT	0.488000														94			24		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595743	82595743	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82595743C>T	uc003uhx.2	-	3	3650	c.3361G>A	c.(3361-3363)Gac>Aac	p.D1121N	PCLO_uc003uhv.2_Missense_Mutation_p.D1121N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1060					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						TTGCGTATGTCTCCAAGCTGT	0.423000														68			17		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443556	5443556	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5443556G>A	uc010qzd.2	+	0	216	c.126G>A	c.(124-126)atG>atA	p.M42I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCATCATGGGCAATACCA	0.542000														96			59		0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622208	241622208	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241622208G>A	uc010fzj.3	-	0	110	c.47C>T	c.(46-48)aCc>aTc	p.T16I	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	16						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTCACAGAGGGTGAAGGTGGC	0.677000														65			22		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728627	51728627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51728627G>A	uc002pwa.2	+	1	231	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CD33_uc010eos.1_Missense_Mutation_p.G64E|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	64	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.E63K(1)		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)	TTCCGGGAAGGAGCCATTATA	0.537000														116			42		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806181	160806181	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:160806181C>T	uc002ube.2	-	24	3859	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	PLA2R1_uc010zcp.2_Missense_Mutation_p.G1216E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G1216E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1216	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGCCAGCGTCCGTTGCTGTC	0.453000														46			13		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352143	15352143	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:15352143C>T	uc002yji.2	-	0		c.623G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		GTACCGGATTCGGTACCCGGA	0.622000														19			5		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508876	26508876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:26508876G>A	uc001bln.4	+	4	560	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.G168S|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	168					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAAGGAGGGCACAGTCCT	0.647000														41			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087251	9087251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9087251C>T	uc002mkp.3	-	0	4768	c.4564G>A	c.(4564-4566)Gga>Aga	p.G1522R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1522	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						CTCCTGATTCCTAGGTGCTGA	0.458000														128			56		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32824950	32824950	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:32824950C>T	uc010ezu.3	+	69	14109	c.13975C>T	c.(13975-13977)Ctt>Ttt	p.L4659F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4659	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCCAAACCTTTATAATGA	0.333000														18			9		0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18226060	18226060	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18226060G>A	uc002gsy.4	+	1	3000	c.2490G>A	c.(2488-2490)ctG>ctA	p.L830L		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	830										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGCCCCGCCTGGCAGACCACC	0.612000														36			18		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774931	47774931	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:47774931C>T	uc022bvq.1	+	4	1135	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZNF81_uc010nhy.2_Missense_Mutation_p.H296Y	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAAAAAATTCATACTGTGGA	0.358000														30			17		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856811	4856811	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:4856811G>A	uc003bqc.3	+	57	8081	c.7731G>A	c.(7729-7731)ctG>ctA	p.L2577L	ITPR1_uc021wsi.1_Silent_p.L2544L|ITPR1_uc021wsj.1_Silent_p.L2529L|ITPR1_uc011asu.2_Silent_p.L555L|ITPR1_uc010hcc.2_Silent_p.L312L|ITPR1_uc011asv.2_Silent_p.L268L	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2592					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)		TTCTTAACCTGATTTTTGGGG	0.433000														84			29		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501510	73501510	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:73501510C>T	uc001jrx.4	+	35	5058	c.4668C>T	c.(4666-4668)atC>atT	p.I1556I	CDH23_uc001jsc.1_Silent_p.I366I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1559	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCGGGATCAACAGTGTTC	0.602000														8			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:13729599C>T	uc003jfd.2	-	68	11874	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L	DNAH5_uc003jfc.2_Silent_p.L112L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3944					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)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome					78			23		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938554	12938554	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:12938554G>A	uc004cvd.3	+	2	1619	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.S465S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	465					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCACATTCGAACTTTTATC	0.403000														49			30		0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328644	160328644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160328644G>A	uc003qsz.3	+	0	671	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	219					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AGAACACGTGGGCTTCCCATT	0.488000														22			17		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839438	62839438	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839438G>A	uc002yii.3	+	6	1253	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	297	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggaggaagaggaaga	0.582000														48			23		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005692	40005692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40005692G>A	uc001zki.3	-	9	1359	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	381										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTCTCAGCCGATTATGCAGA	0.338000														142			48		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81046754	81046754	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:81046754C>T	uc001xux.2	-	18	2991	c.2820G>A	c.(2818-2820)gaG>gaA	p.E940E	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	940						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTTTGGGTCTCTTCCAGTA	0.343000														39			11		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95272517	95272517	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:95272517C>T	uc003ygi.3	-	1	339	c.215G>A	c.(214-216)gGg>gAg	p.G72E	GEM_uc003ygj.3_Missense_Mutation_p.G72E	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	72					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGGTGTTCCCTGACTCAGA	0.592000														29			15		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67909919	67909919	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:67909919C>T	uc002eur.3	+	1	393	c.154C>T	c.(154-156)Ccg>Tcg	p.P52S	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_5'UTR|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	52					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGTCCCAGACCCGCTCTGCTC	0.552000														148			27		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704322	47704323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:47704322_47704323CC>TT	uc002zir.1	-	0	914_915	c.878_879GG>AA	c.(877-879)agg>aAA	p.R293K	YBEY_uc002zit.1_5'Flank|YBEY_uc002ziu.1_5'Flank|YBEY_uc010gqh.3_5'Flank|YBEY_uc002ziv.3_5'Flank|YBEY_uc002ziw.3_5'Flank|YBEY_uc002zix.3_5'Flank|YBEY_uc002ziy.3_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGTCCTCCTTCCTTTTCAGTCC	0.569000														115			38		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044195	133044195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:133044195C>T	uc003ytg.2	-	10	964	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	OC90_uc011lix.1_Missense_Mutation_p.E322K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	338	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GACTCAAATTCCTCCGGGCAC	0.537000														44			14		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122622027	122622027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:122622027C>T	uc001ubq.3	+	11	2152	c.2044C>T	c.(2044-2046)Cca>Tca	p.P682S	MLXIP_uc001ubt.3_Missense_Mutation_p.P289S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCGGGACTGCCCAAACTCAGG	0.617000														40			17		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248437021G>A	uc010pzi.2	-	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000														115			29		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163590	71163590	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71163590C>T	uc002ezr.3	-	8	1331	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	HYDIN_uc010cfz.2_Missense_Mutation_p.G139R|HYDIN_uc021tkq.1_Missense_Mutation_p.G394R|HYDIN_uc010vmc.2_Missense_Mutation_p.G411R|HYDIN_uc010vmd.2_Missense_Mutation_p.G421R|HYDIN_uc002ezw.4_Missense_Mutation_p.G411R	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	394										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)				TTGCTGTCTCCCTGCACCAGC	0.458000														32			10		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317817	31317817	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:31317817T>C	uc003jhe.2	+	10	2028	c.1668T>C	c.(1666-1668)taT>taC	p.Y556Y	CDH6_uc003jhd.2_Silent_p.Y556Y	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	556	Cadherin 5.				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						AAAATGGCTATAATAGACACG	0.468000														67			31		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456386	230456386	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:230456386G>A	uc002vpv.3	-	1	642	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	165					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCGAGGCAGGATTTTGTCAG	0.557000														52			18		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51934282	51934282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:51934282C>T	uc003pah.1	-	10	1027	c.751G>A	c.(751-753)Gat>Aat	p.D251N	PKHD1_uc003pai.3_Missense_Mutation_p.D251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	251					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAAGATCCTGTTTAGCA	0.438000														114			40		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485076	97485076	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:97485076A>G	uc001vmw.3	+	1	1064	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	347						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AACCTGAAGAACATGGCCTTC	0.473000														47			34		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770144	15770144	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15770144G>A	uc010xok.2	+	12	1562	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CYP4F3_uc010xol.2_Silent_p.L504L|CYP4F3_uc002nbj.3_Silent_p.L504L|CYP4F3_uc010xom.2_Silent_p.L355L|CYP4F3_uc002nbk.3_Silent_p.L504L|CYP4F3_uc010xon.2_Silent_p.L214L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	504					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCCGGAGCTGGTCCTGCGCG	0.652000														23			11		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038084	36038084	+	Silent	SNP	G	A	A	rs72742496	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:36038084G>A	uc003jjz.2	-	5	1242	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	UGT3A2_uc011cos.2_Silent_p.G336G|UGT3A2_uc011cot.2_Silent_p.G68G	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	370						integral to membrane	glucuronosyltransferase activity			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)			TATTCTGCCCGCCGTGGGTGA	0.507000														82			6		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159636160	159636160	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:159636160G>A	uc010kjv.3	+	4	844	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	FNDC1_uc010kjw.1_Missense_Mutation_p.R163Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	215	Fibronectin type-III 2.					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)		AGAGATGAACGGACACACGAA	0.438000														34			15		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116280940	116280940	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:116280940A>G	uc001efx.4	-	3	701	c.437T>C	c.(436-438)gTg>gCg	p.V146A	CASQ2_uc010owu.2_Intron	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	146					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.V146V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-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)		GATGATCTCCACTGGGTCTTC	0.443000														131			50		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135054	128135054	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:128135054G>A	uc011ebt.2	-	3	881	c.732C>T	c.(730-732)atC>atT	p.I244I	THEMIS_uc010kfa.3_Silent_p.I147I|THEMIS_uc021zfa.1_Silent_p.I244I|THEMIS_uc010kfb.3_Silent_p.I209I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	244	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.R243H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GACTGGGGAGGATGCGGATTA	0.348000														44			28		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668687	8668687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:8668687C>T	uc002mkj.1	-	4	791	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	173					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCCACTTTCCTCCGGGCTC	0.602000														33			13		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017845	200017845	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200017845G>A	uc001gvb.3	+	4	1215	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	NR5A2_uc001gvc.3_Missense_Mutation_p.E291K|NR5A2_uc009wzh.3_Missense_Mutation_p.E297K|NR5A2_uc010pph.2_Missense_Mutation_p.E265K	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	337					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAGCAAGCACGAAAAGCTGAG	0.463000														144			40		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88396303	88396303	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:88396303G>A	uc002ssr.3	+	6	973	c.888_splice	c.e6+1	p.K296_splice	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Splice_Site	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACAACCCCAAGGTACACACAG	0.527000														22			8		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76396798	76396798	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76396798C>A	uc002jvm.3	+	5	754	c.742C>A	c.(742-744)Cgc>Agc	p.R248S	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	248					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCGCCAGGACCGCTACGTGTT	0.612000														91			26		2.4375e-19	2.48193e-19	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64601679	64601679	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:64601679C>T	uc003dmg.3	-	19	3013	c.2981G>A	c.(2980-2982)gGg>gAg	p.G994E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G966E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G823E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G994E|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	994	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S993S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTTACATTCCCCTGAGCATTT	0.483000														168			47		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205389621	205389621	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:205389621T>A	uc001hcj.2	-	1	179	c.44A>T	c.(43-45)cAa>cTa	p.Q15L	LEMD1_uc001hcl.2_Missense_Mutation_p.Q15L|LEMD1_uc001hci.2_Missense_Mutation_p.Q15L|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.Q15L|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	15	LEM.					integral to membrane|nuclear envelope		p.N14N(1)		breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTTCTCAAGTTGGTTCTGCAA	0.363000														72			22		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367885	142367885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142367885C>T	uc022bby.1	-	0	139	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	GPR20_uc003ywf.3_Missense_Mutation_p.G47S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	47						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)			GGGAAGGTGCCATGCAGCTCC	0.657000														27			7		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83221347	83221347	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83221347G>A	uc002bit.3	-	7	1415	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	CPEB1_uc002bir.3_Silent_p.F291F|CPEB1_uc002bis.3_Silent_p.F286F|CPEB1_uc010uod.2_Silent_p.F135F|CPEB1_uc002biq.3_Silent_p.F286F|CPEB1_uc010uoe.2_Silent_p.F364F|CPEB1_uc002biu.3_Silent_p.F388F|CPEB1_uc010uof.2_Silent_p.F286F|CPEB1_uc002biv.3_Silent_p.F361F|CPEB1_uc002bip.3_Silent_p.F135F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	366	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTCTAGTTCGAAGACCAGAT	0.493000														66			25		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	A	A	rs1762946	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:16952952G>A	uc010ocf.2	-	0		c.43C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TCTGCCCTCAGCTTGGTCACG	0.622000														29			11		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338483	122338483	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122338483A>T	uc003vkj.1	-	0	726	c.490T>A	c.(490-492)Ttc>Atc	p.F164I	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTAAATGGAAAATTTCCGTG	0.418000														92			24		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47788754	47788754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:47788754G>A	uc003gxm.3	-	2	490	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	CORIN_uc011bzf.2_5'UTR|CORIN_uc011bzg.2_Intron|CORIN_uc011bzh.1_Missense_Mutation_p.H133Y|CORIN_uc011bzi.1_Missense_Mutation_p.H133Y|CORIN_uc003gxn.4_Missense_Mutation_p.H133Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	133					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTATTCCTGTGACTTTGGTCC	0.443000														47			17		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444514	49444514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:49444514G>A	uc001rta.4	-	10	2857	c.2857C>T	c.(2857-2859)Cct>Tct	p.P953S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	953	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCCCCAAAGGAGACAGGGCC	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				22			7		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586552	20586552	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20586552G>A	uc001vwo.1	+	0	987	c.987G>A	c.(985-987)atG>atA	p.M329I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATATCCATGAAAAAACTCT	0.373000														18			8		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128553	152128553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152128553G>A	uc001ezs.1	-	2	1087	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	341	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S341S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGACC	0.498000														552			394		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94770710	94770710	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:94770710G>A	uc011lgk.2	+	3	384	c.313_splice	c.e3-1	p.K105_splice	TMEM67_uc010mav.3_Splice_Site_p.K105_splice|TMEM67_uc010mat.1_Splice_Site_p.K20_splice|TMEM67_uc010maw.2_Splice_Site_p.K105_splice|TMEM67_uc003yga.4_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	105					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTAATTTAGAAAGGTGTTA	0.333000														49			23		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098448	168098448	+	Silent	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:168098448G>C	uc010jjg.3	-	33	4323	c.3903C>G	c.(3901-3903)ggC>ggG	p.G1301G	SLIT3_uc003mab.3_Silent_p.G1294G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1294	Laminin G-like.				Roundabout signaling pathway|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	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.G1294G(2)		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)			GCCGGTCCGTGCCCTGGCGCA	0.672000														15			5		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034227	79034227	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:79034227A>G	uc003kgc.3	+	1	9711	c.9639A>G	c.(9637-9639)gaA>gaG	p.E3213E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3213						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCTTCTGAAGGTGACAGTG	0.403000														25			9		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983834	89983834	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:89983834C>T	uc003ukm.2	+	2	367	c.290C>T	c.(289-291)tCa>tTa	p.S97L	GTPBP10_uc003ukl.1_Intron|GTPBP10_uc003uki.1_Missense_Mutation_p.S114L|GTPBP10_uc003ukj.1_Missense_Mutation_p.S88L|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Intron|GTPBP10_uc003uko.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	97					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GTGGGTATTTCAGTAACTGAT	0.333000														39			27		0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124265909	124265909	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:124265909G>A	uc003yqe.3	-	2	2888	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.P760S|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.P760S|ZHX1_uc022bak.1_Missense_Mutation_p.P760S	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	760	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTCCTCTAGGCCGCCCACGC	0.463000														155			57		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705685	101705685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:101705685C>T	uc021oqt.1	+	0	1145	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	S1PR1_uc001dud.2_Missense_Mutation_p.S382F|S1PR1_uc009weg.2_Missense_Mutation_p.S382F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	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														22			15		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49703304	49703304	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:49703304C>T	uc021zai.1	-	4	347	c.259_splice	c.e4-1	p.E87_splice	CRISP3_uc003ozs.3_Splice_Site_p.E77_splice	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	64					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGTTCCATTCCTGAAACAAG	0.373000														48			25		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80863831	80863831	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:80863831C>T	uc002kfy.1	+	19	1954	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	TBCD_uc002kfx.1_Silent_p.S591S|TBCD_uc002kfz.3_Silent_p.S608S|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	608					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCTGCTGTCCATGACACTGA	0.577000														8			4		0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18022346	18022346	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:18022346C>T	uc002wqi.1	-	2	586	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	115					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCACCGAGTCGCTGCACGTG	0.612000														33			8		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704206	113704206	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113704206G>A	uc011lwo.2	-	1	293	c.291C>T	c.(289-291)ttC>ttT	p.F97F	LPAR1_uc004bfa.3_Silent_p.F96F|LPAR1_uc011lwm.2_Silent_p.F97F|LPAR1_uc004bfc.3_Silent_p.F96F|LPAR1_uc011lwn.2_Silent_p.F78F|LPAR1_uc004bfb.3_Silent_p.F96F|LPAR1_uc010mub.3_Silent_p.F96F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	96					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ACCCAGCAAAGAAGTCTGCAG	0.478000														101			29		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381722	30381722	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:30381722C>T	uc002wwp.1	+	13	2279	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	TPX2_uc010gdv.1_Silent_p.I563I	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	527					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGCCCCAAATCCCAGAGGCAA	0.418000														147			61		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299271	58299271	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:58299271G>A	uc001vhq.1	+	3	4215	c.3323G>A	c.(3322-3324)aGc>aAc	p.S1108N	PCDH17_uc010aec.1_Missense_Mutation_p.S1107N|PCDH17_uc001vhr.1_Missense_Mutation_p.S197N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1108					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)		TCCAGAGCCAGCCGGGATTCC	0.527000														83			60		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360409	20360409	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20360409G>A	uc002dhb.3	-	3	442	c.313C>T	c.(313-315)Cct>Tct	p.P105S	UMOD_uc002dgz.3_Missense_Mutation_p.P72S|UMOD_uc002dha.3_Missense_Mutation_p.P72S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	72	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAGCTCCAGGAATGGCGCAC	0.652000														9			3		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399732	10399732	+	Silent	SNP	G	A	A	rs138249334		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10399732G>A	uc002gmo.3	-	33	4885	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1597						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACTCCACGATTCTAATGT	0.443000														155			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582076	179582076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179582076G>A	uc021vsy.1	-	84	21878	c.21653C>T	c.(21652-21654)cCt>cTt	p.P7218L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3879L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8145	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7218T(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)			TACTGATACAGGCTTTAGATC	0.398000														35			18		0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450137	9450137	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:9450137C>T	uc001mho.3	+	12	1528	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	SNORA23_uc001mhp.1_5'Flank	NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	462					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATCATGTATTCCCTCTCTTCA	0.323000														21			10		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51755594	51755594	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:51755594C>T	uc010ufy.2	-	32	8133	c.7908G>A	c.(7906-7908)aaG>aaA	p.K2636K	DMXL2_uc002abd.3_Silent_p.K706K|DMXL2_uc002abf.3_Silent_p.K2635K|DMXL2_uc010bfa.3_Silent_p.K1999K	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2635						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCTTTCTTTTCTTAGTGAAAA	0.313000														41			20		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882760	152882760	+	Silent	SNP	C	T	T	rs142358562	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152882760C>T	uc021ozl.1	+	0	487	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	IVL_uc001fau.3_Silent_p.L163L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	163	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.H162Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggaggggcacctgaagcacct	0.597000														14			19		0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179669645	179669645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:179669645G>A	uc003mls.4	-	7	1070	c.799C>T	c.(799-801)Cct>Tct	p.P267S	MAPK9_uc003mlv.4_Missense_Mutation_p.P267S|MAPK9_uc003mlt.4_Missense_Mutation_p.P267S|MAPK9_uc010jlc.3_Missense_Mutation_p.P267S|MAPK9_uc021yji.1_Missense_Mutation_p.P241S|MAPK9_uc021yjj.1_Missense_Mutation_p.P267S|MAPK9_uc021yjk.1_Missense_Mutation_p.P267S	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	267	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATTCCAGGATACTTTGGT	0.368000														60			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010676	9010676	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9010676C>T	uc002mkp.3	-	37	39189	c.38985G>A	c.(38983-38985)ggG>ggA	p.G12995G	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12997					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						AGGATGGAGTCCCTGAGGTCC	0.517000														26			8		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:158073936C>T	uc003ipj.2	+	8	1173	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.S324F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000														87			33		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770075	15770075	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15770075C>T	uc010xok.2	+	12	1493	c.1443C>T	c.(1441-1443)gtC>gtT	p.V481V	CYP4F3_uc010xol.2_Silent_p.V481V|CYP4F3_uc002nbj.3_Silent_p.V481V|CYP4F3_uc010xom.2_Silent_p.V332V|CYP4F3_uc002nbk.3_Silent_p.V481V|CYP4F3_uc010xon.2_Silent_p.V191V	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	481					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAAGGTGGTCCTGGGGCTCA	0.682000														30			6		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442673	138442673	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:138442673G>A	uc003ihe.4	-	3	3305	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	PCDH18_uc003ihf.4_Missense_Mutation_p.P965L|PCDH18_uc011cgz.2_Missense_Mutation_p.P184L|PCDH18_uc003ihg.4_Missense_Mutation_p.P752L|PCDH18_uc011cha.2_Missense_Mutation_p.P153L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	973	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)					GGAATCTGCAGGCTGAGCGTC	0.493000														76			34		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657116	46657116	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:46657116C>T	uc003bhh.3	-	0	2104	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	702	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTAAAAAATCCTTCTTTTGA	0.388000														54			17		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3410459	3410459	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:3410459A>C	uc001akl.3	-	33	4490	c.4263T>G	c.(4261-4263)tgT>tgG	p.C1421W	MEGF6_uc001akk.3_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1421						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AACCTGGCTCACACCCTGGTG	0.682000														1			2		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144672217	144672217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:144672217G>A	uc003yyq.2	-	0	414	c.185C>T	c.(184-186)aCc>aTc	p.T62I	EEF1D_uc003yyp.2_Missense_Mutation_p.T12I|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Missense_Mutation_p.T12I|EEF1D_uc003yyr.3_Missense_Mutation_p.T12I|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	10					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TTCCCACACGGTCTCCAGGGT	0.647000														26			10		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422112	81422112	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:81422112G>A	uc001xvd.1	+	0	244	c.88G>A	c.(88-90)Gag>Aag	p.E30K	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.E30K|TSHR_uc001xvc.3_Missense_Mutation_p.E30K|TSHR_uc010tvs.2_Missense_Mutation_p.E30K	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	30					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCACCCTGCGAGTGCCATCA	0.612000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							75			22		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74711961	74711961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:74711961G>A	uc001xpq.3	+	2	639	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	183					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TGCTGGCCATGAAAACGGAGC	0.577000														30			16		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866008	140866008	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:140866008T>G	uc003ett.3	+	2	964	c.719T>G	c.(718-720)cTg>cGg	p.L240R	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	240	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CTGATGGACCTGTGCCGGAGA	0.622000														21			4		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22849069	22849069	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22849069C>T	uc001yuq.2	+	9	1246	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	TUBGCP5_uc001yur.4_Silent_p.F372F|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	372					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACAAATATTTCATTAGTTTCA	0.393000														30			10		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758583	5758583	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5758583G>A	uc001mbt.2	+	0	906	c.837G>A	c.(835-837)ttG>ttA	p.L279L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCTACTTTGATTCCAGTTC	0.433000														169			111		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471748	61471748	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61471748G>A	uc002ljl.3	+	7	1118	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SERPINB7_uc002ljm.3_Missense_Mutation_p.G341E|SERPINB7_uc010xet.2_Missense_Mutation_p.G324E|SERPINB7_uc010dqg.3_Missense_Mutation_p.G341E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	341					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)				GCTGCCACAGGAAGTAATATT	0.463000														48			25		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337661	19337661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:19337661G>A	uc002nlz.3	+	6	1538	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	NCAN_uc010ecc.1_Missense_Mutation_p.R44K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	480					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTAGGAGAAGGGGGCGCTTC	0.662000														26			16		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138579	126138579	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:126138579G>A	uc010hsg.1	+	7	893	c.834G>A	c.(832-834)aaG>aaA	p.K278K	CCDC37_uc003eiu.1_Silent_p.K277K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	277										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AACAGGAAAAGAAACACTCGT	0.458000														44			23		0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52847217	52847217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:52847217G>A	uc004drd.1	+	4	372	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	103										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TATTGCAGGGGAAGGGAAACC	0.343000														20			9		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835800	12835800	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12835800G>A	uc001aui.3	+	1	429	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	134										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCAGGGAACTGTCCAA	0.537000														75			56		0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774256	104774256	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:104774256G>A	uc021qpn.1	-	3		c.370C>T			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		TGTTGCCTCCGGACTTTCAAA	0.418000														12			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220352984	220352984	+	Missense_Mutation	SNP	C	T	T	rs77314619	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:220352984C>T	uc010fwg.3	+	31	7810	c.7810C>T	c.(7810-7812)Ctc>Ttc	p.L2604F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2604	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCACCCTGCTCTGCCTGCC	0.607000														69			4		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101656153	101656153	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:101656153G>A	uc001kqj.2	-	10	3013	c.2921_splice	c.e10-1	p.V974_splice	DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Splice_Site_p.V262_splice|DNMBP_uc001kqh.2_Splice_Site_p.V606_splice	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	974					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGTACTTGAGGACTAGGGAGT	0.438000														85			24		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152398	123152398	+	Splice_Site	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:123152398C>A	uc003vkn.3	-	2	574	c.-3_splice	c.e2-1		IQUB_uc003vko.3_Splice_Site|IQUB_uc010lkt.3_Splice_Site|IQUB_uc003vkp.1_Splice_Site|IQUB_uc003vkq.2_Splice_Site	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.											breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAGACATTTTCCTGAATTAAG	0.303000														32			17		4.7546e-09	4.80685e-09	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885139	88885139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:88885139G>A	uc003ydz.3	-	0	1158	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	354										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGGTATGGGGAGGGTATGGT	0.627000														57			20		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433742	43433742	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43433742G>A	uc002ovl.4	-	3	660	c.558C>T	c.(556-558)ctC>ctT	p.L186L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.L65L	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	187	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GAGTCATAGGGAGGCTCTGAC	0.498000														345			111		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724016	142724016	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142724016C>T	uc003wcc.1	-	0	204	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	68					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)					CCAGGATCTCCAGGGTAGAGA	0.458000														84			29		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32546336	32546336	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:32546336G>A	uc003amd.3	-	6	665	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	208										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CTTCAAGAGAGACAGATAGGC	0.418000														121			33		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122231	73122231	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:73122231C>T	uc001jrr.4	+	5	1351	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Silent_p.L286L|SLC29A3_uc001jrt.4_Silent_p.L226L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	432					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCAGCACCCTGGCCCTCCT	0.622000														68			12		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264272	61264272	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61264272A>C	uc010xep.2	+	7	1046	c.878A>C	c.(877-879)cAc>cCc	p.H293P	SERPINB13_uc002ljc.3_Missense_Mutation_p.H284P|SERPINB13_uc002ljd.3_Missense_Mutation_p.H148P|SERPINB13_uc010xeq.2_Missense_Mutation_p.H105P|SERPINB13_uc010xer.2_Missense_Mutation_p.H105P	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	284			G -> S (in dbSNP:rs1020694).		regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.D292Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTGAATCTGCACTTGCCCCGG	0.478000														99			27		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165175	139165175	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:139165175C>A	uc003yuy.3	-	12	1714	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	FAM135B_uc003yux.3_Nonsense_Mutation_p.E416*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.E77*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.E77*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	515										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)			CATTCATCTTCAGGCACACCT	0.463000										HNSCC(54;0.14)				77			42		2.68985e-26	2.74246e-26	1	1	0
MAS1	4142	broad.mit.edu	37	6	160328341	160328341	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160328341G>A	uc003qsz.3	+	0	368	c.354G>A	c.(352-354)acG>acA	p.T118T		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	118					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.T118T(2)|p.T118M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCTACAACACGGGCCTCTATC	0.478000														65			50		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026238	43026238	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43026238T>A	uc002otv.3	-	2	676	c.541A>T	c.(541-543)Aac>Tac	p.N181Y	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Non-coding_Transcript|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Missense_Mutation_p.N181Y|CEACAM1_uc002otw.3_Missense_Mutation_p.N181Y|CEACAM1_uc002otx.3_Missense_Mutation_p.N181Y|CEACAM1_uc002oty.3_Missense_Mutation_p.N181Y|CEACAM1_uc002otz.3_Missense_Mutation_p.N181Y|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.N181Y|CEACAM1_uc002oub.3_Missense_Mutation_p.N181Y|CEACAM1_uc002ouc.3_Missense_Mutation_p.N181Y	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTCTGATTGTTTATCCACCAC	0.542000														196			63		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230714	18230714	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:18230714G>A	uc004cyj.4	-	3	617	c.463C>T	c.(463-465)Cca>Tca	p.P155S	BEND2_uc010nfb.2_Missense_Mutation_p.P155S	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	155										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCTCTTTTTGGAAAATCCACT	0.348000														40			17		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894815	139894815	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:139894815C>T	uc003etn.3	+	1	322	c.132C>T	c.(130-132)atC>atT	p.I44I	CLSTN2_uc003etm.2_Silent_p.I44I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	44	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum 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						AGCCATGGATCGAGACTTCAT	0.368000										HNSCC(16;0.037)				43			18		0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80617461	80617461	+	Missense_Mutation	SNP	C	T	T	rs138345050	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:80617461C>T	uc002kft.3	-	3	463	c.337G>A	c.(337-339)Gat>Aat	p.D113N	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	113					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATACCTCATCGATCTCCTTA	0.562000														36			9		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:51900950G>A	uc002iua.2	+	0	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000														66			37		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80714217C>T	uc001szd.3	+	32	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000														40			21		0	0	1	0	0
STX2	2054	broad.mit.edu	37	12	131283178	131283178	+	Silent	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:131283178A>C	uc001uio.3	-	8	845	c.678T>G	c.(676-678)ggT>ggG	p.G226G	STX2_uc001uip.3_Silent_p.G226G|STX2_uc010tbj.2_Silent_p.G226G	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	226	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TGATCATTTCACCCTTAAAAC	0.303000														63			20		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463915	12463915	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:12463915A>C	uc002mtr.1	-	3	703	c.92T>G	c.(91-93)tTt>tGt	p.F31C	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CACATCCTCAAAGGCTACTGA	0.448000														91			30		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189907882	189907882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:189907882G>A	uc002uqk.3	-	47	3741	c.3466C>T	c.(3466-3468)Cct>Tct	p.P1156S	COL5A2_uc010frx.3_Missense_Mutation_p.P732S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1156					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTACAGGAGGGCCAGGAAGA	0.463000														15			8		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:127727777T>A	uc003kuu.3	-	10	1976	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_uc003kuv.2_Missense_Mutation_p.T480S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	513	EGF-like 6.				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	p.T513S(6)		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)		CTTGAGACAGTTGGTATACAG	0.348000														49			20		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17331140	17331140	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:17331140C>T	uc001mmw.3	+	5	646	c.401C>T	c.(400-402)gCt>gTt	p.A134V	NUCB2_uc001mms.1_Missense_Mutation_p.A135V|NUCB2_uc001mmt.1_Missense_Mutation_p.A134V|NUCB2_uc001mmv.1_Missense_Mutation_p.A134V|NUCB2_uc009ygz.3_Missense_Mutation_p.A134V	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	134						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCACCAAGCTCTTCTAAAA	0.313000														59			37		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027299	79027299	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:79027299C>T	uc003kgc.3	+	1	2783	c.2711C>T	c.(2710-2712)tCa>tTa	p.S904L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	904						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGAATTTTCAGTACCACCA	0.438000														47			12		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:5811248G>A	uc010ndi.3	-	6	2636	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	NLGN4X_uc004crp.3_Silent_p.F707F|NLGN4X_uc010ndh.3_Silent_p.F687F|NLGN4X_uc004crq.3_Silent_p.F687F|NLGN4X_uc004crr.3_Silent_p.F687F|NLGN4X_uc010ndj.3_Silent_p.F687F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000														66			36		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062183	242062183	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:242062183G>A	uc002wao.2	-	11	3169	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PASK_uc010zol.2_Silent_p.F826F|PASK_uc010zom.2_Silent_p.F977F|PASK_uc010fzl.2_Silent_p.F1012F|PASK_uc010zon.2_Silent_p.F793F|PASK_uc021vzf.1_Silent_p.F1012F|PASK_uc002wap.3_Silent_p.F555F|PASK_uc002waq.3_Silent_p.F1012F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1012	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGTCCACACGAAGCCGAAGG	0.612000														82			29		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349230	69349230	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:69349230C>T	uc010kak.3	+	1	939	c.663C>T	c.(661-663)ccC>ccT	p.P221P	BAI3_uc003pev.4_Silent_p.P221P	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	221					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)				TGGTGTTACCCCTGAATGAGC	0.522000														42			18		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250809	10250809	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:10250809G>A	uc002mng.3	-	31	3851	c.3671C>T	c.(3670-3672)cCg>cTg	p.P1224L	DNMT1_uc002mnf.3_Missense_Mutation_p.P148L|DNMT1_uc010xlc.2_Missense_Mutation_p.P1240L|DNMT1_uc002mnh.3_Missense_Mutation_p.P1119L|DNMT1_uc010xld.2_Missense_Mutation_p.P1224L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1224	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTGGCAGGGCGGCCCGCCGCA	0.607000														51			14		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212736	10212736	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10212736C>T	uc002gmk.1	-	34	5074	c.4984G>A	c.(4984-4986)Gat>Aat	p.D1662N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1662					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						AGGGCGTCATCGAGATGCAGC	0.662000														5			3		0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33166049	33166049	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:33166049G>A	uc003cfl.4	+	2	891	c.771G>A	c.(769-771)aaG>aaA	p.K257K	CRTAP_uc010hfz.3_Silent_p.K257K|CRTAP_uc003cfn.3_Silent_p.K78K	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	257						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGACTTCAAGGATTTCTACC	0.512000														79			33		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131444	45131444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:45131444C>T	uc002xsa.3	-	3	1065	c.603G>A	c.(601-603)atG>atA	p.M201I	ZNF334_uc002xsb.3_Missense_Mutation_p.M140I|ZNF334_uc002xsd.3_Missense_Mutation_p.M140I|ZNF334_uc002xsc.3_Missense_Mutation_p.M178I|ZNF334_uc010ghl.3_Missense_Mutation_p.M177I			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATTTTTTCATTCCCAAAT	0.343000														45			27		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118651913	118651913	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:118651913C>T	uc001twx.3	-	9	941	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	TAOK3_uc001tww.3_Missense_Mutation_p.E46K|TAOK3_uc001twy.4_Missense_Mutation_p.E216K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	216	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTCCGTTCCGCTGGAAGA	0.423000														41			12		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76232512	76232512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:76232512G>A	uc010ask.2	+	20	2133	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	TTLL5_uc001xrx.3_Missense_Mutation_p.E606K|TTLL5_uc001xrz.3_Missense_Mutation_p.E181K|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	606					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCCAGGAGGAGTCTGCAGG	0.408000														40			11		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31008936	31008936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:31008936C>T	uc003aip.2	+	2	583	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	TCN2_uc003air.2_Missense_Mutation_p.L112F	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	112					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCTCGCTCTCAGAGCCAA	0.582000														40			15		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810354	124810354	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:124810354G>A	uc003ehw.4	-	11	2007	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I	SLC12A8_uc003ehv.4_Missense_Mutation_p.T617I|SLC12A8_uc003eht.4_Missense_Mutation_p.T418I|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	617					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTAACCAGGGTATACACCCA	0.488000														27			16		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097085	107097085	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:107097085G>A	uc003dwi.1	+	0	898	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	217								p.M217I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCCCCAAATGAAAACTCTGA	0.393000														85			40		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933326	83933326	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83933326T>C	uc002bjt.1	-	3	765	c.677A>G	c.(676-678)aAc>aGc	p.N226S	BNC1_uc010uos.1_Missense_Mutation_p.N214S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	226					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGCTGGGGTTTCCTTTGTC	0.493000														122			45		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625898	54625898	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54625898G>A	uc002qdh.2	+	4	741	c.345G>A	c.(343-345)cgG>cgA	p.R115R	PRPF31_uc010yek.1_Silent_p.R115R|PRPF31_uc021vbi.1_Silent_p.R115R	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	115					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGTTCATCCGGGATAAGTACT	0.537000														150			60		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115351451	115351451	+	Silent	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:115351451T>G	uc003kro.3	+	17	2909	c.2745T>G	c.(2743-2745)gcT>gcG	p.A915A	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	915					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.A915A(1)									ACTGGCAAGCTGTGAGTAAAA	0.423000														49			15		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542523	28542523	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:28542523C>T	uc003nlo.3	-	2	2577	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	653					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTTTCCTCTTCATTGTGCTGG	0.433000														109			35		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970406	123970406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:123970406G>A	uc001lfv.3	+	8	6826	c.6466G>A	c.(6466-6468)Gag>Aag	p.E2156K	TACC2_uc001lfw.3_Missense_Mutation_p.E302K|TACC2_uc009xzx.3_Missense_Mutation_p.E2111K|TACC2_uc010qtv.2_Missense_Mutation_p.E2160K|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.E234K|TACC2_uc001lga.3_Missense_Mutation_p.E234K|TACC2_uc009xzy.3_Missense_Mutation_p.E234K|TACC2_uc001lgb.3_Missense_Mutation_p.E191K|TACC2_uc010qtw.1_Missense_Mutation_p.E251K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2156						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)				GACGCAACAGGAGCCAGATGA	0.517000														171			55		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	G	G	rs121913396		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:41266098A>G	uc010hia.1	+	3	251	c.95A>G	c.(94-96)gAc>gGc	p.D32G	CTNNB1_uc003ckq.2_Missense_Mutation_p.D32G|CTNNB1_uc003ckp.2_Missense_Mutation_p.D32G|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32G|CTNNB1_uc011azf.1_Missense_Mutation_p.D25G|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(140)|p.D32G(134)|p.A5_A80del(119)|p.D32N(87)|p.D32V(74)|p.D32H(41)|p.D32A(34)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.W25_D32del(9)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.WQQQSYLD25?(5)|p.S23_S33del(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.Y30_S33del(4)|p.V22_S33del(4)|p.A5_Y142>D(4)|p.L31L(4)|p.?(4)|p.L10_N141del(4)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.D32E(2)|p.W25_I35del(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.D32del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.W25_S33del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.Q28_D32>H(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.D32fs*9(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.H24_L31del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.L31M(1)|p.Q28_I140del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.L31Q(1)|p.L31W(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTTACCTGGACTCTGGAATC	0.483000	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					39			12		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911232	59911232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59911232G>A	uc002age.3	+	2	1244	c.795G>A	c.(793-795)tgG>tgA	p.W265*	GCNT3_uc002agd.3_Nonsense_Mutation_p.W265*|GCNT3_uc021smz.1_Nonsense_Mutation_p.W265*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	265					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACCCGCTGGAAATATCACT	0.433000														163			64		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328211	57328211	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57328211C>T	uc002qnu.2	-	6	1950	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.V504V|PEG3_uc002qnv.2_Silent_p.V533V|PEG3_uc002qnw.2_Silent_p.V409V|PEG3_uc002qnx.2_Silent_p.V407V|PEG3_uc010etr.2_Silent_p.V533V	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	533					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)		TCTTACATTCCACAAGATAAC	0.448000														137			38		0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459216	148459216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:148459216C>T	uc003ewg.3	+	3	840	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	AGTR1_uc003ewh.3_Missense_Mutation_p.H132Y|AGTR1_uc003ewi.3_Missense_Mutation_p.H132Y|AGTR1_uc003ewj.3_Missense_Mutation_p.H132Y|AGTR1_uc003ewk.3_Missense_Mutation_p.H132Y|AGTR1_uc021xfj.1_Missense_Mutation_p.H132Y	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	132					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGCTATTGTTCACCCAATGAA	0.483000														132			36		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642204	111642204	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:111642204C>G	uc001kyp.2	-	9	1147	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	XPNPEP1_uc009xxt.2_Missense_Mutation_p.E343Q|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E229Q|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E343Q|XPNPEP1_uc010qra.1_Missense_Mutation_p.E67Q	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	300					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGATGGTCTCGCTCACAGCA	0.562000														37			21		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497467	50497467	+	Silent	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:50497467A>C	uc001zxw.3	+	3	1111	c.879A>C	c.(877-879)tcA>tcC	p.S293S	SLC27A2_uc010bes.3_Silent_p.S240S|SLC27A2_uc001zxx.3_Silent_p.S58S	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	293					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)		CTAAATTTTCAGCCAGCCAGT	0.408000														95			19		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12845062	12845062	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:12845062G>A	uc003bxk.2	+	1	193	c.144G>A	c.(142-144)aaG>aaA	p.K48K	CAND2_uc003bxj.2_Silent_p.K48K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	48					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGAGCGCAAGGTGGTGAAGA	0.607000														24			6		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934841	9934841	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:9934841C>T	uc010uym.2	-	6	1759	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	GRIN2A_uc002czo.4_Silent_p.G483G|GRIN2A_uc010uyn.2_Silent_p.G326G|GRIN2A_uc002czr.4_Silent_p.G483G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	483					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	TGCCATGCTTCCCATTGGTCA	0.428000														111			26		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851570	63851570	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:63851570C>T	uc001jlt.2	+	9	2804	c.2348C>T	c.(2347-2349)cCc>cTc	p.P783L	ARID5B_uc001jlu.2_Missense_Mutation_p.P540L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	783					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGATCAGATCCCCACCGCTGC	0.478000														116			36		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409094	4409094	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:4409094G>A	uc001qmo.3	+	4	1094	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	263					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	p.R262L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGTACCGTCAGGACCAACGTG	0.552000			T	IGL@	"""NHL,CLL"""									42			9		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47768181	47768181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:47768181G>A	uc002xud.3	-	4	859	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	STAU1_uc002xua.3_Missense_Mutation_p.H69Y|STAU1_uc002xub.3_Missense_Mutation_p.H69Y|STAU1_uc002xuc.3_Missense_Mutation_p.H69Y|STAU1_uc002xue.3_Missense_Mutation_p.H69Y|STAU1_uc002xuf.3_Missense_Mutation_p.H69Y|STAU1_uc002xug.3_Missense_Mutation_p.H150Y	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	150	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCAGCATCGTGTTTCGCAGCC	0.517000														62			21		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001122	142001122	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142001122G>A	uc011kro.1	+	1	259	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTATAATAATGAAATCTCAGA	0.398000														10			7		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616538	25616538	+	Silent	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:25616538T>A	uc001zaq.3	-	6	1552	c.792A>T	c.(790-792)tcA>tcT	p.S264S	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.S241S|UBE3A_uc001zas.3_Silent_p.S261S|UBE3A_uc001zat.3_Silent_p.S241S	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	264					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CCACGTTAGGTGACAAATATA	0.363000														117			33		0	0	1	0	0
UBE2F	140739	broad.mit.edu	37	2	238925255	238925255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:238925255C>T	uc002vxk.3	+	4	466	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	UBE2F_uc010zno.2_Intron|UBE2F_uc010znn.2_Missense_Mutation_p.P56S|UBE2F_uc010znp.2_Missense_Mutation_p.P88S|SCLY_uc002vxm.4_Intron	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	88					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		AACTGAAGTTCCCGATGCGTA	0.453000														131			46		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823298	54823298	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54823298C>T	uc002qfe.3	-	3	365	c.245G>A	c.(244-246)gGa>gAa	p.G82E	LILRA5_uc002qff.3_Missense_Mutation_p.G70E|LILRA5_uc010yev.2_Missense_Mutation_p.G82E|LILRA5_uc010yew.2_Missense_Mutation_p.G70E|LILRA5_uc002qfg.1_Missense_Mutation_p.G82E|LILRA5_uc002qfh.1_Missense_Mutation_p.G70E	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	82	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGGGCTTCCCTCTTTAAC	0.597000														159			61		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953885	50953885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:50953885C>T	uc009xog.3	-	9	1550	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	OGDHL_uc001jie.3_Missense_Mutation_p.E479K|OGDHL_uc010qgt.2_Missense_Mutation_p.E422K|OGDHL_uc010qgu.2_Missense_Mutation_p.E270K|OGDHL_uc009xoh.2_Missense_Mutation_p.E270K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	479					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCTCCATTCGGCTGCCACA	0.577000														55			18		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87392992	87392992	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:87392992C>T	uc003ydt.3	+	3	388	c.108C>T	c.(106-108)ttC>ttT	p.F36F	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	36	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAACTGGTTCGGAACAGCAA	0.348000														23			3		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411855	43411855	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43411855C>T	uc002ovj.1	-	3	957	c.858G>A	c.(856-858)aaG>aaA	p.K286K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.K126K|PSG4_uc002ovg.1_Silent_p.K286K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	287	Ig-like C2-type 2.		V -> A (in dbSNP:rs2355442).		defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAATGGGTCGCTTTACCCTCG	0.488000														315			112		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424634	179424634	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179424634G>A	uc021vsy.1	-	274	78746	c.78521C>T	c.(78520-78522)cCt>cTt	p.P26174L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P19869L|TTN_uc021vta.1_Missense_Mutation_p.P19802L|TTN_uc021vtb.1_Missense_Mutation_p.P19677L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27101	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26174T(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)			TGCTATCTGAGGGTCAGAGCT	0.403000														62			24		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189898	58189898	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:58189898G>A	uc010rkg.2	-	0	889	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCATGGGGATGATCATAGCAT	0.453000														44			30		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587497	200587497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200587497G>A	uc010ppk.1	-	1	794	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	119	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGTAATGTAAGACGTGTTTCT	0.393000														96			24		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250705	43250705	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:43250705G>A	uc003ouq.1	+	13	2506	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	TTBK1_uc021yzs.1_Missense_Mutation_p.E31K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	743	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ggaagatgaggaagaggaaga	0.577000														16			9		0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131357670	131357670	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:131357670C>T	uc001uis.3	+	2	600	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	RAN_uc001uir.3_Nonsense_Mutation_p.Q82*|RAN_uc010tbk.2_5'UTR|RAN_uc010tbl.2_5'UTR	NM_006325	NP_006316	P62826	RAN_HUMAN	Homo sapiens RAN, member RAS oncogene family (RAN), mRNA.	82					DNA metabolic process|RNA export from nucleus|androgen receptor signaling pathway|cell division|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	GTP binding|GTPase activity|androgen receptor binding|chromatin binding|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CTATTATATCCAAGGTAGGCA	0.433000														77			28		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829790	160829790	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:160829790G>A	uc003qti.3	+	3	721	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	232						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)		TTTAGTGACAGAAATAGTAGG	0.393000														29			21		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76566355	76566355	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76566355C>T	uc010dhp.2	-	6	1143	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	DNAH17_uc002jvv.2_Missense_Mutation_p.E42K	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			TTGCAGAACTCCTGCAGGATG	0.582000														5			3		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:42021428C>T	uc010ucy.2	+	10	3905	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_uc010ucz.2_Nonsense_Mutation_p.R1242*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1242						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1242*(2)|p.R1242P(1)		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)		TGCTCGAGTTCGAGTATATGA	0.413000														19			9		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398705	68398705	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:68398705C>T	uc002ewa.3	-	4	1926	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	SMPD3_uc010cfe.3_Missense_Mutation_p.V502M|SMPD3_uc010vlh.2_Missense_Mutation_p.V502M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	502					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)	TCAAATGCCACCAGCTCCTCG	0.602000														29			16		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806314	6806314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6806314G>A	uc001mer.2	+	0	67	c.46G>A	c.(46-48)Ggg>Agg	p.G16R		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTTTGGTGGGGATTCTGAA	0.453000														36			19		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911949	46911949	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:46911949G>A	uc001ndn.4	-	13	2037	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	598					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATTGGGCCAGAAGAGATGGG	0.577000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			12		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789789	248789789	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248789789G>A	uc001ier.1	-	0	641	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T213T(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|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;0.0265)			GAGGGAGTAGGAAGTGGAGAT	0.493000														48			43		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:126336719G>A	uc003ifj.4	+	4	6601	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_uc011cgp.2_Missense_Mutation_p.E499K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2201	Cadherin 21.				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						TACCAATCAGGAATTTCGGAT	0.433000														119			31		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5787325	5787325	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:5787325G>A	uc002mdc.3	-	6	1357	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Silent_p.I178I	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	420					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGCCACGGACGATCTGCTGGA	0.657000														16			6		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111120	11111120	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:11111120G>A	uc003jfa.1	-	13	2458	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	CTNND2_uc010itt.2_Silent_p.L680L|CTNND2_uc011cmy.1_Silent_p.L434L|CTNND2_uc011cmz.1_Silent_p.L338L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.L338L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	771					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						GCCGGTACGAGAGGTTCCTTA	0.532000														75			41		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087123	92087123	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:92087123C>T	uc001pdj.4	+	0	1862	c.1845C>T	c.(1843-1845)atC>atT	p.I615I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	615	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAAAATCATTTCTGGAA	0.363000										TCGA Ovarian(4;0.039)				9			3		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	A	A	rs143953030		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:113890711G>A	uc003ebd.2	-	2	552	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_uc010hqn.1_Silent_p.I43I|DRD3_uc003ebb.1_Silent_p.I43I|DRD3_uc003ebc.1_Silent_p.I43I	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	43					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000														29			15		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133973262	133973262	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:133973262C>T	uc003ytw.3	+	27	5452	c.5411C>T	c.(5410-5412)cCc>cTc	p.P1804L	TG_uc010mdw.3_Missense_Mutation_p.P563L|TG_uc011ljb.2_Missense_Mutation_p.P173L|TG_uc010mdx.1_5'Flank	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1804					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)		GGTCTGACACCCTTAGAAGGA	0.478000														73			26		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823955	50823955	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50823955C>T	uc002pru.1	-	2	2360	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	KCNC3_uc002prt.1_Missense_Mutation_p.D325N	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	689					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			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)		GGGCTCTTGTCTTCCGGGGAC	0.657000														31			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539434	55539434	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:55539434G>A	uc003xsd.1	+	3	3140	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	998					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)			TATTGCCAATGACACTGGTGA	0.378000														147			49		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470176	10470176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10470176C>T	uc003wtc.3	-	3	1661	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	478					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCACCCCGTCCTCCGGGGTC	0.692000														32			18		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747357	158747357	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158747357G>A	uc010pir.2	-	0	69	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCCAGCCCCTGACATAGCCCA	0.483000														55			40		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829216	35829217	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:35829216_35829217AG>TA	uc010edt.3	+	5	1215_1216	c.1131_1132AG>TA	c.(1129-1134)acagag>acTAag	p.E378K	CD22_uc010edu.3_Intron|CD22_uc010edv.3_Missense_Mutation_p.E378K|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.E206K|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	378	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding	p.T377S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGGAAGGACAGAGGAGAAAGT	0.515000														61			23		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140502505G>A	uc003lip.1	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000														116			46		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154438	248154438	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248154438G>A	uc001idv.1	+	0	870	c.626G>A	c.(625-627)aGc>aAc	p.S209N	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ATCATCTACAGCCTGAGAAAC	0.488000														125			28		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44279970	44279970	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:44279970G>A	uc010jza.1	-	1	277	c.274C>T	c.(274-276)Cca>Tca	p.P92S	TMEM151B_uc003oxg.3_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	92					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCGCTTCGTGGATCCACGGTG	0.542000														36			8		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138313099	138313099	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:138313099G>A	uc011kqh.2	-	9	873	c.873C>T	c.(871-873)atC>atT	p.I291I	SVOPL_uc003vue.3_Silent_p.I139I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	291						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGGCAAAAGAGATTCCAAGCC	0.542000														25			11		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897020	29897020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:29897020G>A	uc010vec.2	-	7	1504	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S350L|SEZ6L2_uc002dur.4_Missense_Mutation_p.S350L|SEZ6L2_uc002duq.4_Missense_Mutation_p.S420L|SEZ6L2_uc010ved.2_Missense_Mutation_p.S376L|SEZ6L2_uc002dus.4_Missense_Mutation_p.S306L	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	420	CUB 2.					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						GTCCATGTCCGAATCATAGAT	0.602000														39			13		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61079480	61079480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:61079480G>A	uc001nrc.4	-	16	2372	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.P716S	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	716	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATAGAGGGGAACTGTGCGA	0.542000								Nucleotide excision repair (NER)						68			45		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55325158	55325158	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55325158G>A	uc010yfl.2	+	6	918	c.885G>A	c.(883-885)atG>atA	p.M295I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Missense_Mutation_p.M128I|KIR3DL2_uc002qhg.3_Missense_Mutation_p.M240I|KIR3DL2_uc002qhi.3_3'UTR|KIR3DL2_uc021vbn.1_3'UTR|KIR3DL2_uc002qhh.3_Missense_Mutation_p.M145I|KIR3DL2_uc002qhj.3_Missense_Mutation_p.M223I|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript|KIR3DL2_uc010esf.3_5'Flank|KIR3DL2_uc021vbo.1_5'Flank|KIR3DL2_uc002qhk.4_5'Flank|KIR3DL2_uc002qhl.4_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	373	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGCTGTAATGAACCAAGAGC	0.507000														70			25		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425034	113425034	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113425034C>T	uc001tuj.3	+	1	509	c.369C>T	c.(367-369)tcC>tcT	p.S123S	OAS2_uc001tuh.3_Silent_p.S123S|OAS2_uc001tui.1_Silent_p.S123S	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	123	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCAGAAGTCCCTTGATGGGT	0.468000														66			18		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700249	77700249	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:77700249C>T	uc011cbx.2	+	10	6863	c.5910C>T	c.(5908-5910)ccC>ccT	p.P1970P	SHROOM3_uc003hkg.3_Silent_p.P1748P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1970					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCTCTGCCCCCAAACCTCA	0.532000														65			22		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169758955	169758955	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:169758955G>A	uc002uem.3	+	2	311	c.219_splice	c.e2-1	p.W73_splice	G6PC2_uc002uen.3_Splice_Site_p.W73_splice|G6PC2_uc010fpv.3_Intron	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	73					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TTAAATACAGGATATTATTTG	0.333000														47			20		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770177	53770177	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:53770177G>A	uc010ydu.2	-	0	742	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	248					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.L248L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGGCAGGAGAGAGTGTAAGAA	0.473000										HNSCC(26;0.072)				24			8		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917576	144917576	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:144917576G>A	uc021ouh.1	-	11	1830	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R510C|PDE4DIP_uc001elx.4_Missense_Mutation_p.R576C|PDE4DIP_uc001emd.2_Missense_Mutation_p.R510C|PDE4DIP_uc001emc.2_Missense_Mutation_p.R510C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R673C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R39C	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	510					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R510H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAAGACGAAGCTGGCGC	0.443000			T	PDGFRB	MPD									387			59		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941610	11941610	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:11941610T>C	uc002dbp.1	-	2	372	c.299A>G	c.(298-300)aAg>aGg	p.K100R	RSL1D1_uc010buv.1_Missense_Mutation_p.K100R|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	100					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGGTTCATCCTTCGTAAATAA	0.363000														36			14		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40693049	40693049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:40693049G>A	uc001rmg.4	+	24	3607	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	LRRK2_uc001rmh.1_Missense_Mutation_p.M784I|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1162					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGCCAGAATGAATTTTCTTG	0.398000														115			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477263	179477263	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179477263G>A	uc021vsy.1	-	214	42510	c.42285C>T	c.(42283-42285)atC>atT	p.I14095I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I7790I|TTN_uc021vta.1_Silent_p.I7723I|TTN_uc021vtb.1_Silent_p.I7598I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15022	Fibronectin type-III 1.						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)			TATTTTTTGTGATATTAATAA	0.398000														20			7		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681328	142681328	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:142681328A>T	uc003evg.3	-	0	851	c.851T>A	c.(850-852)cTg>cAg	p.L284Q	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	284						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GGCCACCACCAGCCAGAAGTA	0.597000														48			18		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839350G>A	uc002yii.3	+	6	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000														22			3		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159961	8159961	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:8159961C>T	uc002gkr.3	+	7	1082	c.941C>T	c.(940-942)cCc>cTc	p.P314L	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	314					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAACTTTCCCACAGGTGAG	0.567000														34			10		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16297395	16297395	+	Silent	SNP	C	T	T	rs74315139		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:16297395C>T	uc002den.4	-	7	907	c.870G>A	c.(868-870)cgG>cgA	p.R290R	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.R302R	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	290					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCTTCTTGCCGTAGGAAGG	0.562000														27			14		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231109	21231109	+	Silent	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21231109T>A	uc002red.3	-	25	8759	c.8631A>T	c.(8629-8631)atA>atT	p.I2877I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2877					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)	GCTGATTGTTTATCTTGACAA	0.398000														170			71		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970003	161970003	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:161970003G>A	uc010pkq.2	-	4	1276	c.852C>T	c.(850-852)gtC>gtT	p.V284V	OLFML2B_uc001gbu.3_Silent_p.V283V	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	283										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCTCAGGTGGACCTGCCTCT	0.592000														92			20		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967153	49967153	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49967153C>T	uc002pnt.3	+	8	1257	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	ALDH16A1_uc010yar.2_Missense_Mutation_p.P330S|ALDH16A1_uc010yas.2_Missense_Mutation_p.P216S|ALDH16A1_uc010yat.2_Missense_Mutation_p.P218S	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	381							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCATTCTATCCCCCAACCTT	0.597000														184			56		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858027	42858028	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:42858027_42858028CC>TT	uc002otl.4	+	20	4296_4297	c.3661_3662CC>TT	c.(3661-3663)cca>TTa	p.P1221L	MEGF8_uc002otm.4_Missense_Mutation_p.P829L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1288	Laminin EGF-like 2.					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)				GCTGCTGCCTCCAGGTGGCGGG	0.693000														9			3		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085740	95085740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:95085740G>A	uc001ydp.3	+	2	1011	c.852G>A	c.(850-852)atG>atA	p.M284I	SERPINA3_uc001ydo.4_Missense_Mutation_p.M309I|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.M284I|SERPINA3_uc001yds.3_Missense_Mutation_p.M284I	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	284					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGACAAGATGGAGGAAGTGG	0.567000														35			4		0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057401	46057401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:46057401C>T	uc002zfq.3	+	0	129	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	23						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGTCGACTGCCCAGAGAGCTG	0.682000														46			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063832	9063832	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9063832G>A	uc002mkp.3	-	2	23818	c.23614C>T	c.(23614-23616)Cca>Tca	p.P7872S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7874	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						GCGGGACCTGGGATGGAGGTG	0.512000														57			19		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616305	248616305	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:248616305C>T	uc001iek.1	+	0	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68F(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|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;0.0265)			AGCTCTCCATCATGGATACCA	0.512000														173			56		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59155891	59155891	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:59155891G>A	uc002iyv.4	+	22	2481	c.2372_splice	c.e22+1	p.R791_splice	BCAS3_uc002iyu.4_Splice_Site_p.R776_splice|BCAS3_uc002iyw.4_Splice_Site_p.R772_splice|BCAS3_uc002iyy.4_Splice_Site_p.R547_splice|BCAS3_uc002iyz.4_Splice_Site_p.R345_splice|BCAS3_uc002iza.4_Splice_Site_p.R330_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	791						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACAGTCTCAGGTAGGAAATGA	0.403000														31			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234321	21234321	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21234321C>T	uc002red.3	-	25	5547	c.5419G>A	c.(5419-5421)Gat>Aat	p.D1807N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1807					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)	TTGGTGAGATCCAGAGCATTG	0.393000														112			54		0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27120612	27120612	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:27120612C>T	uc001bmz.3	+	2	450	c.87C>T	c.(85-87)ttC>ttT	p.F29F	PIGV_uc001bna.3_Silent_p.F29F|PIGV_uc010ofg.2_5'UTR	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	29					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGCCCTCTTCAATGCCATCA	0.502000														53			8		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208005	50208005	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50208005C>T	uc010eng.3	+	7	1048	c.732C>T	c.(730-732)tcC>tcT	p.S244S	CPT1C_uc002ppl.4_Silent_p.S210S|CPT1C_uc002ppi.3_Silent_p.S161S|CPT1C_uc002ppk.3_Silent_p.S244S|CPT1C_uc010enh.3_Silent_p.S244S|CPT1C_uc002ppj.3_Silent_p.S244S|CPT1C_uc010ybc.1_Silent_p.S82S|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	244					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.S244F(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACCTGCGCTCCCGAAATCCGC	0.607000														27			8		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85748118	85748118	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:85748118C>T	uc003hpd.3	-	9	1381	c.973G>A	c.(973-975)Gag>Aag	p.E325K	WDFY3_uc003hpf.3_Missense_Mutation_p.E325K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	325						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGCCTCTTTTGCTTGT	0.328000														50			15		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:47170749G>A	uc001rpi.2	-	12	1511	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S371F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	371					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCCGTGATGGAAATATTTGA	0.398000														57			24		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245175	233245175	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:233245175C>T	uc002vsq.3	+	6	1003	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	280						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGCTTCCCTGGACCCGTC	0.627000														68			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438953	179438953	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179438953C>G	uc021vsy.1	-	274	64427	c.64202G>C	c.(64201-64203)gGa>gCa	p.G21401A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15096A|TTN_uc021vta.1_Missense_Mutation_p.G15029A|TTN_uc021vtb.1_Missense_Mutation_p.G14904A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22328	Fibronectin type-III 55.						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)			CAGCCACCGTCCATTAGGAAG	0.413000														40			7		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430323	29430323	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29430323G>A	uc003nmi.3	+	2	1220	c.777G>A	c.(775-777)caG>caA	p.Q259Q	OR2H1_uc003nmj.1_Silent_p.Q259Q|OR2H1_uc010jri.2_Silent_p.Q181Q|OR2H1_uc021ytr.1_Silent_p.Q259Q	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TCTACCTCCAGCCCAAAAATC	0.522000														98			39		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094543	76094543	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:76094543C>T	uc002jud.2	+	17	5026	c.4426C>T	c.(4426-4428)Cca>Tca	p.P1476S	TNRC6C_uc002juf.2_Missense_Mutation_p.P1512S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1476	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGGCCACCTCCAGGGTTAAC	0.612000														52			27		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345009	43345009	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:43345009G>A	uc002iiw.1	-	12	2196	c.2087C>T	c.(2086-2088)gCc>gTc	p.A696V	LOC100133991_uc010dah.3_Intron|LOC100133991_uc002iit.4_Intron|LOC100133991_uc010dai.3_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.A227V|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.A281V	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	697					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGGCCCTGGGGCCCTTGGCGA	0.602000														66			36		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21846536	21846536	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:21846536G>A	uc003xaa.4	+	15	1912	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	604					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)		GAAGTACTGGGGCCGTTGTGA	0.443000														27			5		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226923	115226923	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:115226923C>T	uc001efe.2	-	4	591	c.543G>A	c.(541-543)gaG>gaA	p.E181E	AMPD1_uc001eff.2_Silent_p.E177E	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	148					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCATGTATTTCTCACGTATGC	0.408000														46			22		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14175300	14175300	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:14175300C>T	uc003byk.2	+	6	828	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	TMEM43_uc003byl.1_Missense_Mutation_p.L72F	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	192						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CAGGTTTTTCCTCTCGTCAGG	0.587000														101			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026299	9026299	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9026299C>T	uc002mkp.3	-	13	36891	c.36687G>A	c.(36685-36687)ctG>ctA	p.L12229L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12231	SEA 2.				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						TGAACGGCATCAGGAGAGGGC	0.468000														123			45		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10078985	10078985	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:10078985C>T	uc021xlv.1	-	13	1940	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N	WDR1_uc021xlw.1_Missense_Mutation_p.D413N|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	553					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACCATCATGTCCATGCCACCG	0.532000														48			13		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787321	167787321	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:167787321C>T	uc001ger.3	-	30	4769	c.4471G>A	c.(4471-4473)Gag>Aag	p.E1491K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1338K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1399K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1491					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGAGTAGCTCCTCCCCACTG	0.403000														27			32		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875845	16875845	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16875845G>A	uc002neu.4	+	10	2674	c.2252_splice	c.e10-1	p.G751_splice	NWD1_uc002net.4_Splice_Site_p.G616_splice|NWD1_uc002nev.4_Splice_Site_p.G545_splice|NWD1_uc021uqg.1_Splice_Site_p.G616_splice	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	751							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						TCTCCCTCAGGCAGCATGAGC	0.582000														27			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675097	100675097	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100675097G>A	uc003uxp.1	+	2	453	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	134	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T133S(1)		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)					CAGTTCTACTGAAGACACTTC	0.478000														106			44		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046174	73046174	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:73046174C>T	uc001sxa.3	+	15	2643	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	871					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						TCTGGGAATTCATATGGATGA	0.388000														69			18		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275427	29275427	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:29275427C>G	uc011dln.2	+	0	961	c.961C>G	c.(961-963)Ctc>Gtc	p.L321V		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	321					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						catgtttaaactctgaagaac	0.383000														46			11		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497419	149497419	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:149497419C>T	uc010lpk.3	+	48	7168	c.7168C>T	c.(7168-7170)Ccc>Tcc	p.P2390S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2393	LDL-receptor class A 9.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGTGTGGCCCCGGCCAGAC	0.682000														5			4		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591043	67591043	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:67591043G>C	uc003jva.3	+	12	2216	c.1636G>C	c.(1636-1638)Gaa>Caa	p.E546Q	PIK3R1_uc003jvc.3_Missense_Mutation_p.E246Q|PIK3R1_uc003jvd.3_Missense_Mutation_p.E276Q|PIK3R1_uc003jve.3_Missense_Mutation_p.E225Q|PIK3R1_uc021xzn.1_Missense_Mutation_p.E183Q|PIK3R1_uc011crb.2_Missense_Mutation_p.E216Q	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	546					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGAAGATTGGAAGAAGACTT	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				57			24		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373416	56373416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56373416C>T	uc002qmd.4	+	4	2499	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.Q618*|NLRP4_uc010etf.3_Nonsense_Mutation_p.Q524*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	693							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCTTTTATCAGCCAGACTT	0.433000														83			31		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27440325	27440325	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:27440325C>G	uc001bnm.3	-	1	1431	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	SLC9A1_uc010ofk.2_Intron|SLC9A1_uc001bnn.2_Missense_Mutation_p.V269L	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	269					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ACCACAGTGACGGCGTCATTG	0.557000														44			12		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	15994426	15994426	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:15994426C>A	uc001mme.3	-	15	2488	c.2455G>T	c.(2455-2457)Gac>Tac	p.D819Y	SOX6_uc001mmd.3_Missense_Mutation_p.D782Y|SOX6_uc001mmf.3_Missense_Mutation_p.D779Y|SOX6_uc001mmg.3_Missense_Mutation_p.D786Y	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	806					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAGTCATCATACATT	0.443000														55			23		1.10513e-12	1.12236e-12	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142626175	142626175	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142626175C>T	uc003wby.1	-	4	792	c.528G>A	c.(526-528)gaG>gaA	p.E176E	TRPV5_uc003wbz.3_Silent_p.E176E	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	176					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCACGATCTCCTCGCTGTTCA	0.612000														25			8		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588650	140588650	+	Missense_Mutation	SNP	T	G	G	rs146706483		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140588650T>G	uc003liz.3	+	0	360	c.171T>G	c.(169-171)agT>agG	p.S57R	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V56V(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGGTGAGTGAGCTGTCTT	0.517000														89			28		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65046257	65046257	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:65046257C>T	uc001odj.3	+	5	850	c.518C>T	c.(517-519)tCc>tTc	p.S173F	POLA2_uc009yqf.1_Missense_Mutation_p.S173F|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	173					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GTGGTTACCTCCTTCGGCTTA	0.478000														77			50		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645933	62645933	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:62645933G>A	uc001jli.3	-	7	1950	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	RHOBTB1_uc009xpe.2_Silent_p.I442I|RHOBTB1_uc001jlh.3_Silent_p.I504I|RHOBTB1_uc001jlj.3_Silent_p.I504I|RHOBTB1_uc001jlk.3_Silent_p.I504I	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	504	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CACAGCTACAGATCAGCAGCG	0.502000														82			31		0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71376437	71376437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71376437C>T	uc002sht.2	+	9	2102	c.1750C>T	c.(1750-1752)Caa>Taa	p.Q584*		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	584					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAATATCAAAAGCGTAT	0.358000														15			4		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165709	172165709	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:172165709G>A	uc003fib.2	-	0	538	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GHSR_uc011bpv.2_Silent_p.F165F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	165					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCCAGATGACGAAGATGACCA	0.647000														27			12		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013082	73013082	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:73013082C>T	uc003hgg.2	+	3	1220	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	NPFFR2_uc010iig.2_Silent_p.I156I|NPFFR2_uc003hgi.2_Silent_p.I275I|NPFFR2_uc003hgh.2_Silent_p.I272I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	374					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGCAGAAGATCATTAAGATGC	0.498000														66			21		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18041552	18041552	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:18041552T>G	uc021trm.1	+	15	5218	c.4999T>G	c.(4999-5001)Ttt>Gtt	p.F1667V	MYO15A_uc021trl.1_Missense_Mutation_p.F1665V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1667	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ccagtgttgctttccccaggt	0.552000														31			12		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434478	72434478	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:72434478C>T	uc001jrg.3	+	1	249	c.249C>T	c.(247-249)ctC>ctT	p.L83L	ADAMTS14_uc001jrh.3_Silent_p.L83L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	83					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCAGTCACCTCCGGGTGGCTC	0.642000														25			11		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432828	180432828	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:180432828G>A	uc003mmr.3	+	7	1541	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	BTNL3_uc010jlp.3_Missense_Mutation_p.E238K	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	453	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTATGACGAGGAAAAGGGGAC	0.488000														35			15		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243273	38243273	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:38243273C>T	uc001zjw.3	+	10	807	c.705C>T	c.(703-705)ttC>ttT	p.F235F	TMCO5A_uc001zjv.1_Intron	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	235						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CCCTATTTTTCATCAGACTGC	0.378000														59			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234493	21234493	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21234493C>T	uc002red.3	-	25	5375	c.5247G>A	c.(5245-5247)atG>atA	p.M1749I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1749					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)	GGTCAAATTTCATTTCAGCAT	0.388000														163			70		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199457	96199457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:96199457C>T	uc003hto.3	-	3	900	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	UNC5C_uc010ilc.2_Missense_Mutation_p.E183K|UNC5C_uc003htq.3_Missense_Mutation_p.E183K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	183	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTAAGACTTCCTGTTCCAAA	0.408000														48			12		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130289789	130289789	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:130289789G>A	uc010htl.3	+	5	2560	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	843	Nonhelical region.|VWFA 5.				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						ATGTGGGCAAGAATCAGGTCC	0.418000														34			5		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30998885	30998886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:30998885_30998886CC>TT	uc021vfn.1	-	2	329_330	c.297_298GG>AA	c.(295-300)ctggga>ctAAga	p.G100R	CAPN13_uc021vfm.1_Missense_Mutation_p.G100R|CAPN13_uc002rnp.1_Missense_Mutation_p.G100R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L99L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGATCCCAGTGCTGCCA	0.520000														25			7		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751868	139751868	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:139751868C>T	uc003lfm.2	+	19	2819	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	SLC4A9_uc003lfj.2_Silent_p.V904V|SLC4A9_uc011czg.1_Silent_p.V841V|SLC4A9_uc003lfl.2_Silent_p.V904V|SLC4A9_uc003lfk.2_Silent_p.V890V	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	928	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGAGGGTCTTCTCACCAC	0.547000														14			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689966	7689966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:7689966G>A	uc002giu.1	+	39	6441	c.6427G>A	c.(6427-6429)Gat>Aat	p.D2143N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2143	AAA 2 (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)				TGAATGGACAGATGGCATCTT	0.557000														45			21		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60600937	60600937	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:60600937T>C	uc001xer.4	+	9	3337	c.2815T>C	c.(2815-2817)Tag>Cag	p.*939Q	C14orf135_uc001xeq.2_Intron|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	0						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ACATTTGTATTAGAGCTCATT	0.363000														112			35		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72537873	72537873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72537873G>A	uc002jky.1	-	3	891	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	177					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						GCTGAACAGGGAGCTGTGGGG	0.632000														17			6		0	0	1	0	0
PAIP2B	400961	broad.mit.edu	37	2	71417122	71417122	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71417122G>A	uc002shu.2	-	2	355	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA.	56					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						AGCGGTCCAAGAAGTCTTGCT	0.527000														13			7		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101816876	101816876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:101816876G>A	uc004azb.1	+	31	3175	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	990	Triple-helical region 6 (COL6).				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)				GGAGAGAAAGGATCCTGGGGT	0.428000														11			17		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391789	125391789	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:125391789G>A	uc011lyz.2	-	0	26	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CGGAGAGTGTGAAGCATTAGG	0.463000														25			33		0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338271	5338271	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:5338271G>A	uc002gby.1	-	2	477	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA.	133					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						TGTTAATGTTGAAAGTGACCG	0.433000														53			24		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14758216	14758216	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:14758216G>A	uc003ssz.3	-	4	604	c.417C>T	c.(415-417)gtC>gtT	p.V139V	DGKB_uc011jxt.2_Silent_p.V132V|DGKB_uc003sta.3_Silent_p.V139V|DGKB_uc011jxu.2_Silent_p.V139V|DGKB_uc011jxv.1_Silent_p.V139V	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	139					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACAGGTAACAGACAATGTCCT	0.453000														28			16		0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51394183	51394183	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:51394183C>G	uc001rxk.2	-	5	586	c.536G>C	c.(535-537)tGg>tCg	p.W179S	SLC11A2_uc001rxd.4_5'UTR|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Missense_Mutation_p.W150S|SLC11A2_uc001rxc.4_Missense_Mutation_p.W150S|SLC11A2_uc010smx.2_Missense_Mutation_p.W146S|SLC11A2_uc001rxh.2_Missense_Mutation_p.W150S|SLC11A2_uc010smy.2_Missense_Mutation_p.W113S|SLC11A2_uc001rxj.2_Missense_Mutation_p.W150S|SLC11A2_uc001rxi.3_Missense_Mutation_p.W150S	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	150					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACCATCAGCCACAGGATGAC	0.428000														36			12		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228162509	228162509	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:228162509C>T	uc002vom.2	+	41	3847	c.3685C>T	c.(3685-3687)Ctg>Ttg	p.L1229L	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1229	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCCACCAGGTCTGCCCGGTGC	0.557000														9			3		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704087	131704087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:131704087G>A	uc002tsa.1	+	3	825	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ARHGEF4_uc010fmw.1_Nonsense_Mutation_p.W748*|ARHGEF4_uc002tsb.1_Nonsense_Mutation_p.W102*|ARHGEF4_uc010fmx.1_Nonsense_Mutation_p.W102*|ARHGEF4_uc002trz.1_Nonsense_Mutation_p.W748*	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	102	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCCAGTGCTGGAGAAAGACGA	0.493000														114			49		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480293	73480293	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:73480293C>T	uc003xzb.3	+	1	912	c.324C>T	c.(322-324)ctC>ctT	p.L108L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	108					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)			CCGGGAAACTCCATATGATGG	0.453000														53			24		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129120679	129120680	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:129120679_129120680CC>TT	uc003iga.3	+	15	2220_2221	c.2089_2090CC>TT	c.(2089-2091)cct>TTt	p.P697F	LARP1B_uc003igc.3_Missense_Mutation_p.P116F|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	697							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTTCCAGCATCCTTCTCATGAA	0.431000														45			25		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61468711	61468711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:61468711G>A	uc002sbe.3	-	52	6783	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L	USP34_uc002sbf.3_Missense_Mutation_p.S404L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2254					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAACTCTGACGAAACATCAAA	0.328000														18			7		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92020282	92020282	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:92020282G>A	uc004aqo.1	-	4	662	c.90C>T	c.(88-90)atC>atT	p.I30I	SEMA4D_uc011ltm.1_Silent_p.I30I|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.I30I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	30	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCTCCCAGGTGATCCGGGGTA	0.617000														13			16		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170053486	170053486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170053486G>A	uc002ues.3	-	45	8846	c.8633C>T	c.(8632-8634)cCt>cTt	p.P2878L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2878	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATGTTGAGGAATACAGCG	0.453000														56			22		0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135960194	135960194	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:135960194C>T	uc004fae.2	-	3	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.E90K|RBMX_uc011mwg.2_Missense_Mutation_p.E51K|RBMX_uc004faf.2_Intron	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	90						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTACCACTTTCAAATGATGGT	0.433000														38			14		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45303659	45303659	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:45303659C>T	uc002ozs.3	+	9	1447	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	CBLC_uc010ejt.3_Missense_Mutation_p.P416S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	462					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGGGAACTCCCCTCCAGCTGC	0.617000			M		AML						OREG0025543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			12		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988293	124988293	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:124988293C>T	uc003yqw.3	+	8	1045	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	280	C2 2.					integral to membrane		p.P280L(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGGTGGATCCCTTTGTGGAG	0.502000														88			44		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928662	35928662	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:35928662G>A	uc003olm.3	-	13	1707	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.I114I|SLC26A8_uc003oll.3_Silent_p.I427I|SLC26A8_uc003oln.3_Silent_p.I532I	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	532					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGTTAGGGATTTGACCCA	0.453000														96			33		0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222743949	222743949	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:222743949C>T	uc009xdz.2	-	5	872	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TAF1A_uc001hni.2_Silent_p.K107K|TAF1A_uc001hnj.3_Silent_p.K221K|TAF1A_uc010pur.2_Silent_p.K221K	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	221					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTGCAGATGTCTTCCAGCTGT	0.343000														57			58		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153929	41153929	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:41153929G>C	uc003jmk.2	-	14	2483	c.2273C>G	c.(2272-2274)tCt>tGt	p.S758C	C6_uc003jml.1_Missense_Mutation_p.S758C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	758	C5b-binding domain.|Sushi 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)				ACAGGTGAGAGAGTTTGAAAT	0.478000														47			16		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101598331	101598331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:101598331G>A	uc001thz.4	-	1	754	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	122					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						TTGTTAAATCGAAGTTCTAAA	0.303000														52			9		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66986043	66986043	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:66986043C>T	uc002jhu.3	-	29	4009	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q	ABCA9_uc010dez.3_Missense_Mutation_p.R1251Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATATTCCTTCCGTAGACAGCT	0.383000														80			29		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021925	167021925	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:167021925C>T	uc003irh.2	+	20	3586	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L	TLL1_uc011cjn.2_Missense_Mutation_p.S1003L|TLL1_uc011cjo.2_Missense_Mutation_p.S804L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	980	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D979Y(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)		ATTGGAGATTCAGTTTTAATT	0.323000														65			26		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462592	105462592	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:105462592G>A	uc001tlc.3	-	3	626	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	ALDH1L2_uc009zuo.3_5'Flank|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AGAAGGATGGGTCCTGTATCC	0.393000														50			21		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640595	57640595	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:57640595G>A	uc002qny.3	+	3	908	c.552G>A	c.(550-552)ctG>ctA	p.L184L	USP29_uc021vci.1_Silent_p.L184L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	184					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L184L(2)		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)		AGGACATTCTGAAGGAAGATA	0.358000														78			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048837	107048837	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:107048837C>T	uc021ser.1	-	169		c.7193G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.572000														239			51		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258350	18258350	+	Silent	SNP	C	T	T	rs142907544		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:18258350C>T	uc022asl.1	+	0	837	c.837C>T	c.(835-837)ctC>ctT	p.L279L	NAT2_uc003wyw.1_Silent_p.L279L	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	279					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GGAGAAATCTCGTGCCCAAAC	0.373000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					49			17		0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958502	41958502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:41958502C>T	uc010win.1	-	7	1130	c.527G>A	c.(526-528)gGa>gAa	p.G176E	MPP2_uc002ien.1_Missense_Mutation_p.G332E|MPP2_uc010wim.1_Missense_Mutation_p.G304E|MPP2_uc002ieo.1_Missense_Mutation_p.G315E|MPP2_uc010wio.1_Missense_Mutation_p.G304E|MPP2_uc010wip.1_Missense_Mutation_p.G360E			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	339					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTTTTTCTTTCCTGAAAGGCT	0.562000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		105			39		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80771688	80771688	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80771688G>A	uc001szd.3	+	57	6901	c.6895G>A	c.(6895-6897)Gaa>Aaa	p.E2299K	OTOGL_uc021rba.1_Missense_Mutation_p.E318K|OTOGL_uc009zsg.2_Missense_Mutation_p.E179K	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCAATATTGAAAGTCACCT	0.368000														10			5		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114181785	114181785	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:114181785G>A	uc001kzu.3	+	15	1748	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ACSL5_uc001kzs.3_Missense_Mutation_p.E490K|ACSL5_uc001kzt.3_Missense_Mutation_p.E490K|ACSL5_uc009xxz.3_Missense_Mutation_p.E490K|ACSL5_uc010qrj.2_Missense_Mutation_p.E272K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	490					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGAATAATGAAGGAGAGGT	0.473000														52			16		0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066738	88066738	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:88066738C>T	uc002fkr.3	+	8	1284	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	BANP_uc010vov.2_Missense_Mutation_p.P330S|BANP_uc002fkq.3_Missense_Mutation_p.P324S|BANP_uc002fks.4_Missense_Mutation_p.P324S|BANP_uc002fkp.3_Missense_Mutation_p.P324S|BANP_uc010vow.2_Missense_Mutation_p.P363S|BANP_uc021tml.1_Missense_Mutation_p.P363S|BANP_uc002fko.1_Missense_Mutation_p.P260S	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	355	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CACCCCACCTCCTGCCAGCGA	0.642000														20			7		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785582	39785582	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:39785582G>A	uc003xnm.3	+	9	1204	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	364					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GCAGCCAAAGGAGAATAAGAC	0.458000														16			3		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20181736	20181737	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:20181736_20181737AC>TT	uc003cbq.3	+	12	2330_2331	c.1884_1885AC>TT	c.(1882-1887)atacct>atTTct	p.P629S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	629	N-acetyltransferase.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAATTAAAATACCTAAAACCAA	0.366000														44			9		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149250	119149250	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:119149250C>G	uc001pwe.3	+	8	1396	c.1258C>G	c.(1258-1260)Cga>Gga	p.R420G		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	420	Asp/Glu-rich (acidic).		R -> Q (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion as well as constitutive ERK phosphorylation).		epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R420Q(13)|p.R420P(2)|p.E366_K477del(2)|p.G397_I429del(2)|p.R420*(2)|p.C419R(1)|p.K322_D460del(1)|p.R420G(1)|p.R420L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCTTTCTGCCGATGTGAAAT	0.448000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					64			33		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358116	72358116	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:72358116C>T	uc009xqg.3	-	2	1522	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	PRF1_uc001jrf.4_Nonsense_Mutation_p.W454*	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	454	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTATTGTCCCACACGGTGCT	0.597000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					53			16		0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9462946	9462946	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:9462946C>T	uc001qvp.2	+	10		c.871C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		TCACGTGATCCCTCCAGACAA	0.557000														60			25		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167644	27167644	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:27167644C>T	uc002rhu.4	+	11	1719	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	DPYSL5_uc002rhv.4_Missense_Mutation_p.R521W|DPYSL5_uc021vev.1_Missense_Mutation_p.R521W	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	521					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R521L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGTCACCCGGCATGGGGG	0.637000														66			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974062	8974062	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:8974062C>T	uc002mkp.3	-	75	42813	c.42609G>A	c.(42607-42609)caG>caA	p.Q14203Q	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.Q1003Q|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14264	SEA 14.			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						GGAAATTTATCTGGTACTCGC	0.488000														14			5		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113325639	113325639	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:113325639G>A	uc010syl.2	+	16	1836	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	RPH3A_uc001ttz.3_Missense_Mutation_p.E492K|RPH3A_uc001tty.3_Missense_Mutation_p.E488K|RPH3A_uc009zwe.1_Missense_Mutation_p.E488K|RPH3A_uc010sym.2_Missense_Mutation_p.E443K|RPH3A_uc001tua.3_Missense_Mutation_p.E252K	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	492	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E492K(1)		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)		TGGCCACAATGAATTTATTGG	0.463000														121			46		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696851	11696851	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:11696851A>G	uc002gne.3	+	41	8161	c.8093A>G	c.(8092-8094)aAa>aGa	p.K2698R	DNAH9_uc010coo.3_Missense_Mutation_p.K1992R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2698					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)		GAATGTGTGAAATCCACATGG	0.373000														64			19		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726525	73726525	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:73726525C>T	uc002jpg.3	+	7	1129	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ITGB4_uc002jph.3_Silent_p.L314L|ITGB4_uc010dgo.3_Silent_p.L314L|ITGB4_uc002jpi.4_Silent_p.L314L|ITGB4_uc010dgp.1_Silent_p.L314L|ITGB4_uc002jpj.3_Silent_p.L314L|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	314	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGCCTGCTCGCCAAGCACA	0.617000														43			22		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261893	158261893	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158261893G>A	uc001fru.3	+	2	640	c.348G>A	c.(346-348)gtG>gtA	p.V116V	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	116					T cell activation involved in immune response|antigen processing and presentation	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)					AAGTACAGGTGAAAGCGGGCT	0.428000														105			22		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146384	5146384	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:5146384A>T	uc003jdl.3	+	2	455	c.317A>T	c.(316-318)cAc>cTc	p.H106L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.H106L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H106L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	106					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCCAGGCACGACTTCCAC	0.537000														72			34		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915211	119915211	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:119915211C>T	uc003vjj.1	+	0	1490	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	175					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGAGGGCCTTCGAGAACCCCC	0.612000														32			21		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510685	84510685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:84510685C>T	uc004eeq.3	+	3	1386	c.500C>T	c.(499-501)tCa>tTa	p.S167L	ZNF711_uc004eep.3_Missense_Mutation_p.S167L|ZNF711_uc004eeo.3_Missense_Mutation_p.S167L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	167					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTAACTAATTCAGATACAGAA	0.418000														38			22		0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939292	14939292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:14939292C>T	uc021png.1	+	2	731	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.L149F|SUV39H2_uc001ini.3_Missense_Mutation_p.L149F|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.L149F	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	209	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGCTGGAGTTCTTTTGGCTTA	0.413000														82			42		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140530763G>A	uc003lir.3	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	309	Cadherin 3.				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)			GGATTTTGAGGAAATTCAGTC	0.463000														50			24		0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019154	55019154	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55019154C>T	uc002qgc.3	+	2	241	c.119C>T	c.(118-120)tCc>tTc	p.S40F	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.S40F|LAIR2_uc010erl.3_Missense_Mutation_p.S40F	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	40	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTGTGATCTCCCCGGGGAGC	0.557000														125			33		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64525970	64525970	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:64525970C>T	uc001oax.4	-	2	1180	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	121					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCTCCAGCTCCTCCATGTCCA	0.662000														56			32		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19051715	19051715	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:19051715C>T	uc002dfp.2	+	8	1414	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	TMC7_uc010vao.1_Missense_Mutation_p.H423Y|TMC7_uc002dfq.3_Silent_p.I428I|TMC7_uc010vap.2_Silent_p.I318I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	428						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGCCAAGATCATCCGCTATG	0.443000														55			27		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:138373853G>A	uc002tva.1	+	16	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		CCTCCTGAATGAAAATTGCTT	0.453000														121			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542438	179542438	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179542438C>T	uc021vsy.1	-	142	30694	c.30469G>A	c.(30469-30471)Gaa>Aaa	p.E10157K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11084	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCTTCTTCGGGAGGAACT	0.453000														70			30		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240482	39240482	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39240482C>T	uc010wfn.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTTGTGGCTCCGTGTGCTCTG	0.592000														24			3		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340068	42340068	+	Missense_Mutation	SNP	C	A	A	rs56290668		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42340068C>A	uc002igf.4	-	2	191	c.42G>T	c.(40-42)gaG>gaT	p.E14D	SLC4A1_uc021tyc.1_Missense_Mutation_p.E14D	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	14					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTCCAGATTCTCCTCCATCA	0.587000														35			11		0.000978159	0.000981926	1	1	0
DKK2	27123	broad.mit.edu	37	4	107846968	107846968	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:107846968G>C	uc003hyi.3	-	1	1066	c.361C>G	c.(361-363)Cgc>Ggc	p.R121G	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R121G	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	121	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTATTGCAGCGGGTACTGGGG	0.498000														119			50		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910933	52910933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52910933C>T	uc001san.3	-	5	1339	c.1176G>A	c.(1174-1176)atG>atA	p.M392I	KRT5_uc009zmh.3_Missense_Mutation_p.M392I	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	392	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATCCGGTTCA	0.522000														120			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237292	140237292	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140237292C>T	uc003lhx.2	+	0	1659	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.F553F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.692000														54			22		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:61028352C>T	uc010qif.1	-	7	1035	c.969G>A	c.(967-969)cgG>cgA	p.R323R	FAM13C_uc010qid.2_Silent_p.R218R|FAM13C_uc001jkn.3_Silent_p.R301R|FAM13C_uc001jko.3_Silent_p.R301R|FAM13C_uc010qie.2_Silent_p.R218R|FAM13C_uc001jkp.3_Silent_p.R218R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000														55			13		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997595	115997595	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:115997595G>A	uc003ibu.3	-	1	1277	c.598C>T	c.(598-600)Cct>Tct	p.P200S	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	200	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)		TGCAGCAAAGGAGATTGAGGG	0.413000														72			24		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990485	215990485	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:215990485C>T	uc001hku.1	-	47	9811	c.9424G>A	c.(9424-9426)Gga>Aga	p.G3142R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3142	Fibronectin type-III 18.				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)		AGATCATATCCAAGAATGATG	0.403000										HNSCC(13;0.011)				88			52		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22555137	22555137	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22555137G>A	uc001wcz.1	+	1	323	c.263G>A	c.(262-264)gGa>gAa	p.G88E	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR					SubName: Full=HADV23S1; Flags: Fragment;																		AAGaaagaaggaagattcaca	0.453000														8			7		0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669690	122669690	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:122669690C>T	uc001pyi.4	+	9	1758	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	466	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCGATCATGTCTATTGCTCCC	0.433000														25			16		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427086	111427086	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:111427086C>T	uc003dya.3	+	1	1047	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PLCXD2_uc003dxz.3_Silent_p.F159F	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	159	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGATTATCTTCCTGGATTTCA	0.502000														87			40		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415121	121415121	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121415121A>G	uc010hrc.3	-	12	4375	c.4249T>C	c.(4249-4251)Tct>Cct	p.S1417P	GOLGB1_uc003eei.4_Missense_Mutation_p.S1412P|GOLGB1_uc003eej.4_Missense_Mutation_p.S1378P|GOLGB1_uc021xcy.1_Missense_Mutation_p.S1337P|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1298P|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1376P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1412					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTGTCCAGAAAGGTAGCTA	0.368000														141			53		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12359324	12359324	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12359324C>T	uc001atv.3	+	24	6240	c.6099C>T	c.(6097-6099)ctC>ctT	p.L2033L	VPS13D_uc001atw.3_Silent_p.L2033L|VPS13D_uc001atx.3_Silent_p.L1221L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2033					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCCCGTTCTCTTGATCCCAG	0.443000														39			31		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142500285	142500285	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142500285G>A	uc003ywi.2	-	4	710	c.629C>T	c.(628-630)aCg>aTg	p.T210M	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	210							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAGCTCCGTCTCCAGATG	0.647000														18			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225858	21225858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:21225858C>T	uc002red.3	-	28	12564	c.12436G>A	c.(12436-12438)Gac>Aac	p.D4146N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4146					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)	TGGGCCTTGTCCTTCCACTCT	0.507000														101			33		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665120	157665120	+	Splice_Site	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:157665120T>G	uc001fqz.4	-	8	1703	c.1411_splice	c.e8+1	p.V471_splice	FCRL3_uc001fqx.4_Splice_Site|FCRL3_uc001fqy.4_Splice_Site|FCRL3_uc009wsn.3_Splice_Site|FCRL3_uc009wso.3_Splice_Site|FCRL3_uc001fra.3_Splice_Site_p.V197_splice|FCRL3_uc001frb.3_Splice_Site_p.V471_splice|FCRL3_uc001frc.1_Splice_Site_p.V471_splice	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	471						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)					CTTGCTTACCTGTGACCCTGA	0.478000														196			48		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784241	160784241	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:160784241G>A	uc001fwu.3	+	3	812	c.762G>A	c.(760-762)ggG>ggA	p.G254G	LY9_uc010pjs.1_Silent_p.G254G|LY9_uc001fwv.3_Silent_p.G254G|LY9_uc001fww.3_Silent_p.G254G|LY9_uc001fwy.1_Silent_p.G156G|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	254	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAACAACGGGGGAGACTGTGG	0.582000														80			19		0	0	1	0	0
PECAM1	5175	broad.mit.edu	37	17	62399316	62399316	+	RNA	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:62399316G>A	uc002jef.2	-	1		c.1914C>T						P16284	PECA1_HUMAN	Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA.						cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding							BRCA - Breast invasive adenocarcinoma(8;1.28e-12)			GAGGTCGTCTGATCCTTTGAC	0.498000														9			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582664	55582664	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55582664C>T	uc010qhy.1	-	34	5238	c.4843G>A	c.(4843-4845)Gaa>Aaa	p.E1615K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1610K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1585K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1605K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1568K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1539K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1610K|PCDH15_uc010qia.1_Missense_Mutation_p.E1588K|PCDH15_uc001jju.1_Missense_Mutation_p.E1608K|PCDH15_uc010qib.1_Missense_Mutation_p.E1585K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1608					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTCATTTTCAGCTTTCTGC	0.443000										HNSCC(58;0.16)				104			50		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523684	55523684	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:55523684G>A	uc002ehz.4	+	6	1439	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	MMP2_uc010vhd.2_Silent_p.A300A|MMP2_uc010ccc.3_Silent_p.A326A	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	376	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A376A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTGGTGTGCGACCACAGCCA	0.587000														59			13		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:151751698G>A	uc009wnb.1	-	4	624	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R144C|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.R148C|TDRKH_uc001ezd.4_Missense_Mutation_p.R148C|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	148	KH 2.						RNA binding	p.R148C(2)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000														87			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486272	179486272	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179486272G>A	uc021vsy.1	-	193	37800	c.37575C>T	c.(37573-37575)caC>caT	p.H12525H	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.H6220H|TTN_uc021vta.1_Silent_p.H6153H|TTN_uc021vtb.1_Silent_p.H6028H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13452	Ig-like 83.						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)			CATCCTCAAGGTGAGCGTTCT	0.418000														38			22		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195514	3195514	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:3195514C>A	uc002fvh.1	-	0	363	c.363G>T	c.(361-363)atG>atT	p.M121I		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A120T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGTCATAGGCCATGGCGGTCA	0.607000														55			15		0.0202918	0.0203308	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65855093	65855093	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:65855093T>G	uc001dce.1	+	9	1549	c.1348T>G	c.(1348-1350)Tct>Gct	p.S450A	DNAJC6_uc001dcc.1_Missense_Mutation_p.S424A|DNAJC6_uc001dcd.1_Missense_Mutation_p.S393A|DNAJC6_uc010opc.1_Missense_Mutation_p.S380A	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	393					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			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						CATCCTCTTCTCTTCTCACCA	0.433000														63			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954455	119954456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:119954455_119954456GG>AA	uc001txe.3	+	7	1376_1377	c.911_912GG>AA	c.(910-912)cgg>cAA	p.R304Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	304								p.R304Q(2)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGATGGTTCGGGAAGATGCCC	0.490000														39			7		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170160844	170160844	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:170160844T>C	uc003mas.3	+	7	1107	c.578T>C	c.(577-579)aTg>aCg	p.M193T	KCNIP1_uc003map.3_Missense_Mutation_p.M191T|KCNIP1_uc003mat.3_Missense_Mutation_p.M182T|KCNIP1_uc010jjp.3_Missense_Mutation_p.M154T|KCNIP1_uc010jjq.3_Missense_Mutation_p.M207T	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	193	EF-hand 4.				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)			TTTCAGAAAATGGACAAAAAT	0.408000														40			14		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844446	106844446	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:106844446C>T	uc022cce.1	+	0	812	c.444C>T	c.(442-444)ttC>ttT	p.F148F				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1092						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTCAAAATTTCCCTCCCAAAA	0.592000														32			24		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327865	42327865	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42327865T>G	uc002igf.4	-	19	2846	c.2697A>C	c.(2695-2697)gaA>gaC	p.E899D	SLC4A1_uc021tyc.1_Missense_Mutation_p.E533D	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	899	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCCCGACCTTCCTCCTCAT	0.607000														33			14		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113413	117113413	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:117113413G>A	uc003pxj.1	-	5	2695	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	GPRC6A_uc003pxk.1_Silent_p.T716T|GPRC6A_uc003pxl.1_Silent_p.T820T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	891					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)		TTTTCTGCCAGGTTGCAGACT	0.473000														98			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029927	62029927	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:62029927G>A	uc001jky.3	-	4	813	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	ANK3_uc010qih.2_Missense_Mutation_p.L142F|ANK3_uc001jkz.4_Missense_Mutation_p.L153F|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	159					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						TTGTCAAGAAGAAACTTGACA	0.413000														52			18		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349921	21349921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21349921G>A	uc001req.4	+	7	873	c.769G>A	c.(769-771)Gct>Act	p.A257T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	257					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGGTTGGAGCTTGGTGGCT	0.363000														89			38		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36083473	36083473	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:36083473A>G	uc003zyv.3	+	7	637	c.551A>G	c.(550-552)gAa>gGa	p.E184G	RECK_uc003zyu.4_Missense_Mutation_p.E184G|RECK_uc003zyw.3_Missense_Mutation_p.E56G|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	184	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAAGCAGTGGAAAATTATTGC	0.393000														44			23		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599181	57599181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57599181G>A	uc001snd.3	+	73	11849	c.11383G>A	c.(11383-11385)Gag>Aag	p.E3795K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3795	EGF-like 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACGAGGCACGCTG	0.682000														23			4		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525310	112525310	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:112525310C>T	uc001ebu.1	-	1	519	c.39G>A	c.(37-39)cgG>cgA	p.R13R	KCND3_uc001ebv.1_Silent_p.R13R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	13	Interaction with KCNIP2 (By similarity).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGCCGCAGCCCGGGCAAAAG	0.672000														16			6		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35178764	35178764	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:35178764T>C	uc001ziv.3	-	24	2961	c.2780A>G	c.(2779-2781)tAt>tGt	p.Y927C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	927						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCACAGGTATATGAGGCATC	0.383000														58			34		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383180	29383181	+	Silent	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:29383180_29383181CC>TT	uc003aeg.3	+	1	417_418	c.417_418CC>TT	c.(415-420)gtccta>gtTTta	p.139_140VL>VL	ZNRF3_uc021wnq.1_Silent_p.39_40VL>VL	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	139						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCTCACTGTCCTAGGCAAGGT	0.455000														75			23		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592810	156592810	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156592810G>A	uc003lwn.3	-	0	470	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	124						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATTTCAAGGGAAGCAGTCTC	0.522000														63			14		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299173	125299173	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:125299173G>A	uc004euk.2	-	0	908	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	245								p.H244Q(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCTCGGACGGATGTGGGCAT	0.647000														14			12		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76072977	76072977	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:76072977G>A	uc010umm.1	+	5	366	c.289_splice	c.e5-1	p.E97_splice	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CTTCCTATAGGAAAAGAAAAC	0.507000														57			26		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260213	28260213	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:28260213C>T	uc009xky.3	-	7	1064	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Silent_p.K14K|ARMC4_uc001itz.3_Silent_p.K322K|ARMC4_uc010qdu.1_Silent_p.K14K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	322							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GATCCTTTTCCTTTTGCTGGT	0.388000														34			13		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335933	20335933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:20335933C>T	uc001iqg.1	+	2	1097	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	154						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAATACTCATCGGCAAGCTGC	0.373000														49			16		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50464827	50464827	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:50464827C>T	uc001vdk.2	+	0	283	c.101C>T	c.(100-102)tCg>tTg	p.S34L						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AGACCAGATTCGAATCCTTAT	0.537000														9			10		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65271785	65271785	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:65271785T>A	uc001xht.3	-	1	223	c.172A>T	c.(172-174)Aag>Tag	p.K58*	SPTB_uc001xhr.3_Nonsense_Mutation_p.K58*|SPTB_uc001xhs.3_Nonsense_Mutation_p.K58*|SPTB_uc001xhu.3_Nonsense_Mutation_p.K58*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	58	Actin-binding.|CH 1.				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)		GTGAAGGTCTTTTTCTGAACA	0.557000														38			20		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16790836	16790836	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16790836C>T	uc002nes.3	+	1	257	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	56						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGCGTCCTGGCTGTGCGCCAT	0.607000														26			7		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62949871	62949871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:62949871C>T	uc001sre.3	+	24	3699	c.3308C>T	c.(3307-3309)tCa>tTa	p.S1103L	MON2_uc010ssn.2_Missense_Mutation_p.S1103L|MON2_uc009zqj.3_Missense_Mutation_p.S1103L|MON2_uc010ssl.2_Missense_Mutation_p.S1031L|MON2_uc010ssm.2_Missense_Mutation_p.S1080L|MON2_uc001srf.3_Missense_Mutation_p.S866L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1104					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)		ATTCATCATTCAAGGGACACC	0.453000														34			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151873396	151873396	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:151873396G>A	uc003wla.3	-	37	9361	c.9142C>T	c.(9142-9144)Cta>Tta	p.L3048L	MLL3_uc003wkz.3_Silent_p.L2109L|MLL3_uc003wky.3_Silent_p.L557L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3048	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTTCTTCTAGAAGAAGGGGC	0.468000			N		medulloblastoma									95			47		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18048148	18048148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:18048148G>A	uc001mnp.2	-	5	718	c.692C>T	c.(691-693)cCt>cTt	p.P231L	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	231					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACCAGCCACAGGACGGATGGA	0.413000														19			21		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545536	151545536	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:151545536C>T	uc003eze.3	+	4	866	c.776C>T	c.(775-777)tCa>tTa	p.S259L		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	259					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACTGATAGATCACTTGAAAAA	0.358000														65			22		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134343098	134343098	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:134343098C>T	uc004can.4	+	11	1924	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	PRRC2B_uc010mzj.1_Silent_p.S206S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	623	Gln-rich.						protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATCAGAAGTCCCTTCCTCCCC	0.557000														8			12		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424552	56424552	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56424552C>T	uc010ygg.2	-	4	656	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	211							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTCATGTTCGTCCTTTGAT	0.493000														117			40		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849751	73849751	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:73849751G>A	uc003xzb.3	+	2	2749	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	721					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)			GAACTTTAAGGAAAATAGAGG	0.527000														117			38		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19344692	19344692	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:19344692C>T	uc002nlz.3	+	8	3213	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	NCAN_uc010ecc.1_Silent_p.F602F	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1038	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATCAGGGCTTCGCCGGGGAGA	0.522000														58			14		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622547	108622547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:108622547C>T	uc002tdv.3	+	6	1060	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SLC5A7_uc010ywm.2_Missense_Mutation_p.L15F|SLC5A7_uc010fjj.3_Missense_Mutation_p.L262F|SLC5A7_uc010ywn.2_Missense_Mutation_p.L149F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	262					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)	TCAGAGGGTTCTCTCTTCTTC	0.502000														62			30		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121774339	121774339	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121774339G>A	uc003eet.3	+	0	131	c.3G>A	c.(1-3)atG>atA	p.M1I	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Missense_Mutation_p.M1I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	1					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CAGCCAAAATGGATCCCCAGT	0.453000														51			17		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55119023	55119023	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:55119023G>A	uc010ooe.1	+	2	748	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.G142R|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G142R|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	142						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						tctgagctctgggaaccaccc	0.517000														91			28		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877669	2877669	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:2877669A>T	uc002lwp.1	+	3	800	c.713A>T	c.(712-714)aAa>aTa	p.K238I	ZNF556_uc002lwq.3_Missense_Mutation_p.K237I	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGTGTGGGAAAGGCTTCAGT	0.517000														35			16		0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47800616	47800616	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:47800616G>A	uc002lem.4	-	10	1523	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MBD1_uc002lef.3_Intron|MBD1_uc002leg.3_Silent_p.F312F|MBD1_uc010dow.2_Silent_p.F362F|MBD1_uc010xdi.2_Silent_p.F413F|MBD1_uc010xdj.2_Intron|MBD1_uc002lel.4_Silent_p.F339F|MBD1_uc002len.3_Silent_p.F362F|MBD1_uc002leh.4_Intron|MBD1_uc002lei.4_Silent_p.F362F|MBD1_uc002lej.4_Intron|MBD1_uc002lek.4_Silent_p.F313F|MBD1_uc021ukd.1_Silent_p.F387F|MBD1_uc021uke.1_Intron|MBD1_uc010xdk.2_Silent_p.F387F|MBD1_uc010dox.1_Silent_p.F339F|MBD1_uc002leo.2_Silent_p.F362F	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	362					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCTGCCCCCGAATTTGGGCT	0.642000														54			18		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275888	159275888	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:159275888G>A	uc001ftq.3	+	4	539	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	148	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTATTATAAGGATGGTGAAGC	0.502000														104			24		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473564	52473564	+	Missense_Mutation	SNP	G	A	A	rs146046759	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:52473564G>A	uc002egw.2	-	6	1475	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TOX3_uc010vgt.1_Missense_Mutation_p.S430L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	435	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTTTGCACCGAAGGACTCAC	0.552000														40			14		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652567	101652568	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:101652567_101652568AC>TT	uc010fiv.3	-	8	1601_1602	c.1470_1471GT>AA	c.(1468-1473)gtgtgt>gtAAgt	p.C491S	TBC1D8_uc010yvw.2_Missense_Mutation_p.C506S|TBC1D8_uc002tau.4_Missense_Mutation_p.C248S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	491					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGAAACATACACACGGTTCTGC	0.460000														104			37		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014031	21014031	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:21014031G>A	uc001bdr.4	-	7	1906	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.L596L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	596					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTCTTGCGGGAGGTAGTTCT	0.647000														17			12		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209560	71209560	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:71209560G>A	uc002ezr.3	-	4	617	c.466C>T	c.(466-468)Cct>Tct	p.P156S	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.P156S|HYDIN_uc010vmc.2_Missense_Mutation_p.P173S|HYDIN_uc010vmd.2_Missense_Mutation_p.P183S|HYDIN_uc002ezw.4_Missense_Mutation_p.P173S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	156										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)				GGCACTCCAGGAGCCACTTTG	0.448000														65			19		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457219	77457219	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:77457219C>T	uc004ajl.1	-	3	431	c.193G>A	c.(193-195)Gat>Aat	p.D65N	TRPM6_uc004ajk.1_Missense_Mutation_p.D60N|TRPM6_uc022bib.1_Missense_Mutation_p.D60N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D65N|TRPM6_uc010mpd.1_Missense_Mutation_p.D65N|TRPM6_uc010mpe.1_Missense_Mutation_p.D65N|TRPM6_uc004ajn.1_Missense_Mutation_p.D65N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	65					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGAATAATCTATCCCAGCA	0.398000														36			45		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:88854820G>A	uc010kbz.3	-	1	304	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_uc011dzr.2_Silent_p.F58F|CNR1_uc011dzs.2_Silent_p.F58F|CNR1_uc003pmq.4_Silent_p.F58F|CNR1_uc011dzt.2_Silent_p.F58F|CNR1_uc010kca.3_Silent_p.F25F|CNR1_uc021zco.1_Silent_p.F58F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458000														29			18		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9970272	9970272	+	Silent	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9970272C>G	uc003bua.3	+	11	1499	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.L331L|IL17RC_uc003btz.3_Silent_p.L356L|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.L356L|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Silent_p.L341L|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Silent_p.L341L|IL17RC_uc003bue.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	427						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGAAGGTTCTCGAGTTCCCAT	0.597000														218			82		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651265	121651265	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:121651265A>G	uc003vjy.3	+	11	2560	c.2165A>G	c.(2164-2166)gAg>gGg	p.E722G	PTPRZ1_uc011knt.2_Missense_Mutation_p.E722G|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E722G	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	722					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCCCAACTGAGGTAACACCT	0.488000														105			32		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8051978	8051978	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:8051978G>A	uc002gkd.3	-	7	1270	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.I328I	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	344					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AACCCGAATGGATGCGCTCTG	0.607000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						82			31		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563101	140563101	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140563101G>A	uc003liv.3	+	0	2122	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCCACAGATGGGGGAGG	0.488000														89			26		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170366961	170366961	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170366961C>T	uc002ueu.1	+	0	750	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	225					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TATCCGTTTTCGCCTTATGAC	0.348000														83			26		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261664	39261664	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39261664C>T	uc010wfp.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	8						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTTGTGGCTCCGTGTGCTCTG	0.612000														15			5		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15716921	15716921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:15716921G>A	uc002ddr.3	-	10	2537	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Missense_Mutation_p.S774L|KIAA0430_uc010uzw.2_Missense_Mutation_p.S777L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	776						peroxisome	RNA binding|nucleotide binding	p.S777S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGCTGCTCGAATTTGCAAT	0.443000														44			28		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69699715	69699715	+	Missense_Mutation	SNP	C	T	T	rs149687512		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:69699715C>T	uc010lyz.3	+	11	1784	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L	C8orf34_uc003xyb.3_Missense_Mutation_p.P387L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	412					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTTCATCAACCATGGATCTTG	0.348000														22			5		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798510	137798510	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:137798510A>T	uc003vtz.3	+	7	1017	c.930A>T	c.(928-930)gaA>gaT	p.E310D	AKR1D1_uc011kqf.2_Missense_Mutation_p.E269D|AKR1D1_uc011kqe.1_Intron|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	310					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic 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						GCTTTGTAGAATTGCTCATGT	0.383000														23			12		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852061	176852061	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176852061A>C	uc001glc.3	-	19	3508	c.3296T>G	c.(3295-3297)gTg>gGg	p.V1099G	ASTN1_uc001glb.1_Missense_Mutation_p.V1099G|ASTN1_uc001gld.1_Missense_Mutation_p.V1099G	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1107	Fibronectin type-III 1.				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						CTTGTCCGGCACCTGAGATGG	0.488000														90			18		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571909	47571909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:47571909C>T	uc001cqu.1	+	8	1180	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	393			P -> L (in dbSNP:rs28463559).			endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CATCACCTTTCCAGATGGACG	0.438000														86			6		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124134728	124134728	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:124134728C>T	uc001pzx.3	+	2	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GTTAAATGATCATATATAAAC	0.294000														1			3		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248451	48248451	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:48248451C>T	uc002lev.3	+	3	1835	c.835C>T	c.(835-837)Cct>Tct	p.P279S	MAPK4_uc010xdm.2_Missense_Mutation_p.P68S|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	279	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)		CAAGCTGCTCCCTGAAGTGAA	0.612000														16			6		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925048	70925048	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:70925048G>A	uc021rvq.1	+	0	832	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ADAM21_uc001xmd.3_Missense_Mutation_p.D278N	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	278	Peptidase M12B.				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)		GGTCCTGAACGATTTCTCTCA	0.353000														90			31		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249665	177249665	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:177249665C>T	uc001glf.3	+	7	1665	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	FAM5B_uc001glg.3_Silent_p.S346S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	451						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCAATCTTCCTGCCAGGGCC	0.612000														41			30		0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24759283	24759283	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:24759283C>A	uc002zzw.3	+	11	3101	c.2798C>A	c.(2797-2799)cCt>cAt	p.P933H	SPECC1L_uc002zzv.4_Missense_Mutation_p.P933H|SPECC1L_uc011ajq.2_Missense_Mutation_p.P933H|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_5'UTR	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	933					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCAAGAGTGCCTGCGATGGAA	0.438000														49			14		2.61681e-11	2.65243e-11	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963061	73963061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:73963061G>A	uc004eby.3	-	2	1948	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	444					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation 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						CTCAATGAAGGAACTATCATC	0.468000														63			36		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465047	48465047	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:48465047G>A	uc003csw.2	-	2	1244	c.974C>T	c.(973-975)cCc>cTc	p.P325L	PLXNB1_uc003csu.2_Missense_Mutation_p.P325L|PLXNB1_uc003csx.2_Missense_Mutation_p.P325L|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	325	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCATCCAGGGGGAAGGCACA	0.657000														34			10		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719119	42719119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:42719119G>A	uc021xxv.1	+	9	1668	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	GHR_uc003jmt.3_Missense_Mutation_p.G504S|GHR_uc003jmu.3_Missense_Mutation_p.G504S|GHR_uc003jmv.2_Missense_Mutation_p.G504S|GHR_uc021xxw.1_Missense_Mutation_p.G504S|GHR_uc021xxx.1_Missense_Mutation_p.G504S|GHR_uc021xxy.1_Missense_Mutation_p.G504S|GHR_uc021xxz.1_Missense_Mutation_p.G504S|GHR_uc021xya.1_Missense_Mutation_p.G504S|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.G317S|GHR_uc021xyd.1_Missense_Mutation_p.G482S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	504					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTTTCCCCGGGCCAAAAGAA	0.483000														25			6		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33686945	33686945	+	Missense_Mutation	SNP	G	A	A	rs150110918		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:33686945G>A	uc002ypk.3	+	4	477	c.290G>A	c.(289-291)aGa>aAa	p.R97K	URB1_uc002ypn.2_3'UTR	NM_206898	NP_996781	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 2, mRNA.	0					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CAAGCCCCTAGAGAGGAAGGG	0.527000														41			13		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133337	119133337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:119133337C>T	uc003ecj.4	+	11	3093	c.2561C>T	c.(2560-2562)tCt>tTt	p.S854F		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	854					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATGCTGCTTCTGAGGGGAAA	0.517000														36			15		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941060	22941060	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22941060T>C	uc021urt.1	-	3	1806	c.1651A>G	c.(1651-1653)Acc>Gcc	p.T551A		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCATAAGGGTTGAGGAATTG	0.328000														51			18		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048181	105048181	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:105048181C>T	uc001kws.3	+	2	1304	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	419	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGGCTGAATCCACTTCCCAA	0.473000														98			37		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:108690227G>A	uc003dxl.3	-	24	2587	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_uc011bhn.2_Missense_Mutation_p.P813S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000														57			16		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758933	121758933	+	Silent	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:121758933T>G	uc003ksw.1	+	3	707	c.501T>G	c.(499-501)tcT>tcG	p.S167S	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.S167S|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.S214S|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.S167S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	167					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCTTGCCTCTTTTACCAAGG	0.473000														118			16		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565118	11565118	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:11565118G>A	uc003jfa.1	-	2	370	c.225C>T	c.(223-225)atC>atT	p.I75I	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	75					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						GGCTGGCTACGATCTGCCGTT	0.512000														32			12		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177374	39177374	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:39177374T>A	uc004abi.3	-	5	1107	c.868A>T	c.(868-870)Aaa>Taa	p.K290*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.K290*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.K290*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.K290*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	290	Laminin G-like 1.				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)		TGAGTGTGTTTGTCCACGGTG	0.453000														72			33		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:185229341C>T	uc003fpm.3	-	8	1349	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_uc010hyh.3_Missense_Mutation_p.M379I	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.R412Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000														83			21		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387725	56387725	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:56387725G>A	uc010bfn.3	-	8	2201	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S548F	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	637					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGGCAGAGGAATTCAAGGG	0.413000														57			22		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314675	79314675	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:79314675C>T	uc002sny.2	-	2	176	c.64_splice	c.e2+1	p.G22_splice	REG1B_uc010ffv.1_Splice_Site_p.G22_splice|REG1B_uc010ffw.3_Splice_Site_p.G22_splice	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	22					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AAAATCTCACCTTGGCTCAGA	0.473000														30			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563932	176563932	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176563932C>T	uc001gkz.3	+	2	2356	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	PAPPA2_uc001gky.1_Missense_Mutation_p.P398S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	398					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						CCTGAACAGCCCCTTCATGGC	0.587000														94			24		0	0	1	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486227	11486227	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:11486227T>C	uc002mrg.1	+	1	262	c.225T>C	c.(223-225)ctT>ctC	p.L75L		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.	75																	CCCGAGAGCTTTTCCGGCTCC	0.597000														187			62		0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167745528	167745528	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:167745528T>C	uc011bpe.1	-	11	1958	c.1614A>G	c.(1612-1614)gaA>gaG	p.E538E	GOLIM4_uc003ffe.2_Silent_p.E537E|GOLIM4_uc011bpf.1_Silent_p.E510E|GOLIM4_uc011bpg.1_Silent_p.E509E	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	537	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCCTCAGATTCTGGGTCGG	0.493000														120			48		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516404	27516404	+	Silent	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:27516404G>T	uc003xga.1	+	4	858	c.717G>T	c.(715-717)cgG>cgT	p.R239R	SCARA3_uc003xgb.1_Silent_p.R239R	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	239					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGATCCAGCGGAAGACAGACG	0.592000														35			13		1.05317e-09	1.06543e-09	1	1	0
BTBD17	388419	broad.mit.edu	37	17	72357938	72357938	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72357938G>A	uc002jkn.2	-	0	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	7						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						ACCCAGGCTTGGAGTAGCCTC	0.627000														24			10		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565787	40565787	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:40565787C>T	uc010bbl.3	+	8	2093	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	PAK6_uc010bbm.3_Silent_p.I551I|PAK6_uc001zky.4_Silent_p.I551I|PAK6_uc010bbn.3_Silent_p.I551I|PAK6_uc001zlb.3_Silent_p.I551I	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	551	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTGCTCAGATCAGCAAAGACG	0.557000														26			9		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368983	22368983	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:22368983G>A	uc010tzu.2	+	0	506	c.408G>A	c.(406-408)atG>atA	p.M136I	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		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)		CTACCATCATGAATCAACGTC	0.507000														277			64		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545253	82545253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:82545253C>T	uc003uhx.2	-	6	12338	c.12049G>A	c.(12049-12051)Gaa>Aaa	p.E4017K	PCLO_uc003uhv.2_Missense_Mutation_p.E4017K|PCLO_uc010lec.3_Missense_Mutation_p.E982K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3948					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						CTACTTCTTTCCTCCAAACCT	0.388000														145			52		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012157	129012157	+	Splice_Site	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:129012157T>C	uc003iga.3	+	6	490	c.359_splice	c.e6-1	p.S120_splice	LARP1B_uc003ifw.1_Splice_Site_p.G73_splice|LARP1B_uc003ifx.3_Splice_Site_p.S120_splice|LARP1B_uc003ify.3_Splice_Site_p.S120_splice|LARP1B_uc003ifz.1_Splice_Site_p.S120_splice	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	120	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ttttaaaaGGTTGGAAGCGAG	0.353000														40			15		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60470992	60470992	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:60470992C>T	uc010wpc.2	+	6	581	c.510C>T	c.(508-510)ttC>ttT	p.F170F	EFCAB3_uc002izu.2_Silent_p.F118F	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	118							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGAATCTCTTCCTCAAGGCAG	0.448000														42			17		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156515	55156515	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:55156515T>C	uc003han.4	+	21	3247	c.2916T>C	c.(2914-2916)agT>agC	p.S972S	PDGFRA_uc003haa.3_Silent_p.S732S	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	972					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S972G(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTGAAGAGTGACCATCCTG	0.413000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				57			27		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743997	17743997	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:17743997G>A	uc021uqk.1	-	26	3260	c.3218C>T	c.(3217-3219)cCc>cTc	p.P1073L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1074					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGCTCCTGGGGAAACCTGGC	0.522000														66			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086706	9086706	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9086706G>A	uc002mkp.3	-	0	5313	c.5109C>T	c.(5107-5109)gtC>gtT	p.V1703V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1703	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1702F(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						ACTCAGAAAGGACAGAGGAAA	0.488000														91			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167680	140167680	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140167680G>A	uc003lhb.2	+	0	1805	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G602D	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	615	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGACTCGGGCTACAACGCG	0.667000														75			21		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874403	39874403	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:39874403G>A	uc001zkh.3	+	2	256	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	26	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTCTGGCGGAGACAACAGC	0.602000														26			13		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434800	118434800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:118434800G>A	uc001lct.3	-	11	1625	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	HSPA12A_uc001lcu.3_Missense_Mutation_p.P424L	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	507							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CACGTCCTGGGGGATGATGAT	0.667000														28			10		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140076234	140076234	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:140076234A>G	uc004clr.1	-	6	1440	c.1367T>C	c.(1366-1368)cTg>cCg	p.L456P	ANAPC2_uc004clq.1_Missense_Mutation_p.L312P	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	456					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGTCTTGGACAGCTCAACAGC	0.662000														9			9		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363809	22363809	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22363809G>A	uc002nqs.1	-	2	1028	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R236Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGATTGAGGATCGATTAAA	0.353000														115			26		0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54867589	54867589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:54867589G>A	uc001cxe.3	-	3	632	c.221C>T	c.(220-222)cCt>cTt	p.P74L	SSBP3_uc001cxf.3_Missense_Mutation_p.P74L|SSBP3_uc001cxg.3_Missense_Mutation_p.P74L	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTCCTTTCAGGAGCTGCACA	0.373000														62			17		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964781	88964781	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:88964781G>A	uc011khi.2	+	3	3023	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	829						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)			CATCTATTGTGATTCTAACTC	0.373000										HNSCC(36;0.09)				62			23		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030944	56030944	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:56030944C>T	uc010spq.2	+	0	269	c.269C>T	c.(268-270)cCc>cTc	p.P90L		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCCCGCATCCCCAGGCCATC	0.602000														68			23		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331509	83331509	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:83331509C>T	uc010uoi.2	-	22	2947	c.2770G>A	c.(2770-2772)Ggc>Agc	p.G924S	AP3B2_uc010uoh.2_Missense_Mutation_p.G905S|AP3B2_uc010uoj.2_Missense_Mutation_p.G873S|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.G541S	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	905					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACATGCAGGCCCTTGATGGGG	0.582000														13			6		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980944	70980944	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70980944G>A	uc001swb.4	-	6	1530	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	PTPRB_uc010sto.2_Silent_p.S500S|PTPRB_uc010stp.2_Silent_p.S410S|PTPRB_uc001swc.4_Silent_p.S718S|PTPRB_uc001swa.4_Silent_p.S718S|PTPRB_uc001swd.4_Silent_p.S717S|PTPRB_uc009zrr.2_Silent_p.S597S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	500	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTCAGCTAGGGAAATGATGT	0.473000														36			10		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100589882	100589882	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:100589882C>T	uc001ygu.3	+	3	452	c.365C>T	c.(364-366)tCc>tTc	p.S122F	EVL_uc001ygt.3_Missense_Mutation_p.S120F|EVL_uc001ygv.2_Missense_Mutation_p.S126F	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	120					actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ACAGGCCCCTCCAGCCAGCGT	0.587000														21			6		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763053	43763053	+	Missense_Mutation	SNP	C	T	T	rs147249563	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43763053C>T	uc002owd.4	-	3	1043	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.R222Q|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	315	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)				GCCACCATATCGGTCCCGTAT	0.493000														160			50		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517574	36517574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:36517574C>T	uc010eeq.2	-	3	790	c.476G>A	c.(475-477)tGg>tAg	p.W159*	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Nonsense_Mutation_p.W159*	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	159					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATGTTGGTCCAGCGGCTGCG	0.682000														17			3		0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574462	102574462	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:102574462G>A	uc003vau.3	+	1	491	c.102G>A	c.(100-102)cgG>cgA	p.R34R	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.R34R	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	34					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.R34W(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCATGGCCGGGCGGGTGGAG	0.557000														34			19		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56926876	56926876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:56926876G>A	uc002ekd.4	+	20	2487	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	SLC12A3_uc010ccm.3_Missense_Mutation_p.A811T|SLC12A3_uc010ccn.3_Missense_Mutation_p.A819T	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	811					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGACCCCAAGGCCCTGGTGAA	0.647000														19			9		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974696	200974696	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:200974696G>A	uc001gvs.2	-	3	891	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	KIF21B_uc009wzl.2_Missense_Mutation_p.R192C|KIF21B_uc001gvr.2_Missense_Mutation_p.R192C|KIF21B_uc010ppn.2_Missense_Mutation_p.R192C|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	192	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGATGAGGCGAGAAGTGACG	0.622000														33			31		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41870240	41870240	+	Silent	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:41870240C>G	uc001zof.2	+	18	2675	c.2439C>G	c.(2437-2439)ccC>ccG	p.P813P		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	813						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGGAGCCCACTGCGGGAG	0.607000														47			7		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62594545	62594545	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:62594545A>G	uc001dab.3	+	40	5313	c.5199A>G	c.(5197-5199)caA>caG	p.Q1733Q	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Silent_p.Q517Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1733	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.G1732W(1)|p.G1732G(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTAACGGGCAACCTTTGGATG	0.443000														97			23		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6337259	6337259	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:6337259C>T	uc002gcp.3	-	1	351	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AIPL1_uc021toq.1_Missense_Mutation_p.E47K|AIPL1_uc002gcq.3_Intron|AIPL1_uc002gcr.3_Missense_Mutation_p.E86K|AIPL1_uc010clk.3_Missense_Mutation_p.E64K|AIPL1_uc010cll.3_Missense_Mutation_p.E86K|AIPL1_uc021tor.1_Missense_Mutation_p.E86K|AIPL1_uc002gcs.3_Missense_Mutation_p.E86K	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	86	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACCAGAACTCGGCCACCTCG	0.602000														18			3		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513069	69513069	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:69513069A>T	uc021xow.1	-	5	1504	c.1346T>A	c.(1345-1347)aTt>aAt	p.I449N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	449					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GTCATGATGAATTCTTGATAA	0.388000														109			40		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88091628	88091628	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:88091628G>A	uc011cdb.1	-	6	1733	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	KLHL8_uc003hql.1_Missense_Mutation_p.R450C|KLHL8_uc003hqm.1_Missense_Mutation_p.R374C|KLHL8_uc003hqn.1_Missense_Mutation_p.R267C|KLHL8_uc010ikj.1_Missense_Mutation_p.R99C	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	450										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTCCTCCACGGGGAGTATTC	0.393000														77			33		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196054	131196054	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:131196054G>A	uc003vqw.4	-	1	497	c.239C>T	c.(238-240)gCg>gTg	p.A80V	PODXL_uc003vqx.4_Missense_Mutation_p.A80V	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	80	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					AAGGGTGGTCGCCTTGACCGA	0.587000														46			32		0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469490	21469491	+	Nonsense_Mutation	DNP	AT	TA	TA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21469490_21469491AT>TA	uc001vyr.3	+	3	874_875	c.682_683AT>TA	c.(682-684)ata>TAa	p.I228*	SLC39A2_uc001vys.3_Nonsense_Mutation_p.I129*	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	228						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGTTCTCCATACTATTATTA	0.569000														48			19		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897364	153897364	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:153897364C>T	uc003inf.2	+	10	2996	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	974					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGGACGTTCCCCTGCAGCCC	0.667000														32			7		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39562435	39562435	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:39562435G>A	uc001wup.1	-	2	458	c.235C>T	c.(235-237)Cga>Tga	p.R79*	SEC23A_uc010tqa.1_5'UTR|SEC23A_uc010tqb.1_Nonsense_Mutation_p.R79*|SEC23A_uc010tqc.1_5'Flank	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	79					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGTTTTGCTCGATAATCCACT	0.348000														29			10		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:69093461C>T	uc002sez.1	-	1	736	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	193					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000														69			17		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44015333	44015333	+	Silent	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:44015333C>A	uc002lcb.1	+	2	510	c.459C>A	c.(457-459)ccC>ccA	p.P153P	RNF165_uc002lby.1_Silent_p.P86P|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	153							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCTCAGCCCAGGTATTTGG	0.622000														31			7		0.000157383	0.000158192	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56920956	56920956	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:56920956C>T	uc002ekd.4	+	16	2158	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	SLC12A3_uc010ccm.3_Missense_Mutation_p.S710L|SLC12A3_uc010ccn.3_Missense_Mutation_p.S709L	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	710					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTTCTACTCGGATGTCATT	0.602000														50			8		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20404440G>A	uc001vwj.2	+	0	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGCCTGATATCATTGA	0.438000														104			31		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679161	51679161	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:51679161C>T	uc011bdt.2	+	15	2697	c.2572C>T	c.(2572-2574)Ccc>Tcc	p.P858S	RAD54L2_uc003dbh.3_Missense_Mutation_p.P447S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P552S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P184S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	858	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCAGAAAAAGCCCTGTTACAT	0.502000														21			9		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681813	91681814	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:91681813_91681814CC>TT	uc001xyw.2	+	12	1981_1982	c.1629_1630CC>TT	c.(1627-1632)gtccac>gtTTac	p.H544Y	C14orf159_uc001xyz.2_Missense_Mutation_p.H415Y|C14orf159_uc001xzb.2_Missense_Mutation_p.H539Y|C14orf159_uc001xyx.2_Missense_Mutation_p.H487Y|C14orf159_uc001xzc.2_Missense_Mutation_p.H539Y|C14orf159_uc001xza.2_Missense_Mutation_p.H544Y|C14orf159_uc001xyv.2_Missense_Mutation_p.H504Y|C14orf159_uc001xze.2_Missense_Mutation_p.H539Y	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	539						mitochondrion		p.R544R(1)|p.L543L(1)		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)		CATGTGCTGTCCACAGTCAGTA	0.550000														63			17		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517644	195517644	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:195517644G>A	uc021xjp.1	-	1	963	c.807C>T	c.(805-807)tcC>tcT	p.S269S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.S151S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	274					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGAGCCTGTGGAGGTTGTCA	0.473000														53			25		0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995692	21995692	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21995692C>T	uc021ter.1	-	2	574	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	PDZD9_uc002dka.2_Missense_Mutation_p.E169K	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	231										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GAAGAGCTTTCATTGTCTTGC	0.453000														255			78		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29847043	29847043	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:29847043C>T	uc002dui.3	+	5	748	c.596C>T	c.(595-597)aCc>aTc	p.T199I	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Intron|MVP_uc002duj.3_Missense_Mutation_p.T199I|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	199					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TGGCTGGTCACCACAGTAGGG	0.617000														17			5		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164751193	164751193	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:164751193G>A	uc003fei.3	-	22	2618	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	852	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	ATTAGAAACTGAAAATGTATA	0.269000										HNSCC(35;0.089)				16			3		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108901	21108901	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:21108901C>T	uc001vxv.1	-	0	950	c.950G>A	c.(949-951)gGg>gAg	p.G317E		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAAAGATTCCCTAAAACGCC	0.343000														128			41		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944941	117944941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:117944941C>T	uc001ehd.1	+	1	1157	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	146					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TAAGGTAGTCCAAGAAATGAA	0.403000														40			15		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157430	231157430	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:231157430G>A	uc002vql.3	+	19	2010	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G518E|SP140_uc002vqm.3_Missense_Mutation_p.G572E|SP140_uc010fxl.3_Missense_Mutation_p.G605E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	632	SAND.				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)		GAAATCAAAGGAGGCCATGCA	0.522000														59			34		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92940548	92940548	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:92940548T>C	uc003umo.3	+	19	1947	c.1819T>C	c.(1819-1821)Tta>Cta	p.L607L	CCDC132_uc003ump.3_Silent_p.L577L|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.L327L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	607										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCACCTATCTTAACAAATAC	0.308000														92			46		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173836	49173836	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49173836G>A	uc002pkb.3	-	1	504	c.408C>T	c.(406-408)agC>agT	p.S136S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.S136S	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	136						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CACGGAGGTGGCTGGCCGCCA	0.711000														2			2		0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153761231	153761231	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:153761231G>A	uc004fly.1	-	8	1090	c.977C>T	c.(976-978)cCc>cTc	p.P326L	G6PD_uc004flx.1_Missense_Mutation_p.P356L	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	326					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACCGTGGGGTCGTCCAG	0.622000														40			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209145	34209145	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:34209145C>T	uc001bxm.1	-	13	2086	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	CSMD2_uc001bxn.1_Missense_Mutation_p.D597N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	597	CUB 4.					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)				TTGCCATAGTCCTCTGGGTAG	0.572000														48			17		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147736	27147736	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:27147736T>C	uc011jzl.2	-	2	1330	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S	HOXA3_uc003syk.3_Missense_Mutation_p.N377S	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	377					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGCCCGGAGTTGCTCATGGG	0.682000														18			4		0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678585	2678585	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:2678585G>A	uc003mty.4	-	9	1206	c.909C>T	c.(907-909)ttC>ttT	p.F303F	MYLK4_uc003mtx.4_Silent_p.F18F	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	303	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTCACCCAGGAAAGGCGACA	0.502000														65			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113323281	113323281	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:113323281C>T	uc003ynu.3	-	49	7970	c.7811G>A	c.(7810-7812)gGa>gAa	p.G2604E	CSMD3_uc003yns.3_Missense_Mutation_p.G1806E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2564E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2500E|CSMD3_uc003ynw.1_Missense_Mutation_p.G315E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2604	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGCTTTTTCCAACAAGTCG	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				52			23		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857043	210857043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:210857043C>T	uc001hib.2	-	10	2720	c.2550G>A	c.(2548-2550)tgG>tgA	p.W850*	KCNH1_uc001hic.2_Nonsense_Mutation_p.W823*	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	850					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACACCTTGTTCCAGTCCTCAC	0.607000														70			65		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229649	38229649	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:38229649G>A	uc002ohe.3	-	4	1811	c.1742C>T	c.(1741-1743)cCc>cTc	p.P581L	ZNF573_uc010efs.2_Missense_Mutation_p.P494L|ZNF573_uc002ohd.3_Missense_Mutation_p.P579L|ZNF573_uc002ohf.3_Missense_Mutation_p.P523L|ZNF573_uc002ohg.3_Missense_Mutation_p.P493L|ZNF573_uc021utv.1_Missense_Mutation_p.P493L	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ACATTCATAGGGTTTTTTATC	0.368000														65			26		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:24324357G>A	uc003xeb.3	+	5	548	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ADAM7_uc003xea.1_Silent_p.V145V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	145					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)		TTGAACCAGTGAAATACTCAG	0.368000														66			14		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160811739	160811739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:160811739C>T	uc002ube.2	-	22	3484	c.3272G>A	c.(3271-3273)gGc>gAc	p.G1091D	PLA2R1_uc010zcp.2_Missense_Mutation_p.G1091D|PLA2R1_uc002ubf.3_Missense_Mutation_p.G1091D	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1091	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAACCCATAGCCTTCCTTTCC	0.353000														54			14		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156536	6156536	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:6156536G>A	uc002mef.1	+	4	708	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSBG2_uc002mee.1_Intron|ACSBG2_uc002meg.1_Missense_Mutation_p.D161N|ACSBG2_uc002meh.1_Missense_Mutation_p.D161N|ACSBG2_uc002mei.1_Missense_Mutation_p.D111N|ACSBG2_uc010xiz.1_Missense_Mutation_p.D161N	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	161					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTGAGAATGATCAACAGTT	0.483000														112			38		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704450	69704450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:69704450C>T	uc001xky.3	+	8	1697	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	EXD2_uc001xkt.3_Missense_Mutation_p.P359L|EXD2_uc001xkv.3_Missense_Mutation_p.P484L|EXD2_uc001xkw.3_Missense_Mutation_p.P359L|EXD2_uc001xku.3_Missense_Mutation_p.P229L|EXD2_uc001xkx.3_Missense_Mutation_p.P359L|EXD2_uc010aqt.3_Missense_Mutation_p.P484L|EXD2_uc010tte.2_Missense_Mutation_p.P484L	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	359					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCCAGGCCCCCATCGGCTCT	0.622000														14			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436049	179436049	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179436049C>T	uc021vsy.1	-	274	67331	c.67106G>A	c.(67105-67107)gGa>gAa	p.G22369E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G16064E|TTN_uc021vta.1_Missense_Mutation_p.G15997E|TTN_uc021vtb.1_Missense_Mutation_p.G15872E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23296	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)			GACTCTACTTCCTCCATCACT	0.438000														83			32		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825002	4825002	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:4825002G>A	uc021qcs.1	-	0	609	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCACAAAGAGCCCATTCC	0.498000														27			15		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113795286	113795286	+	Missense_Mutation	SNP	G	A	A	rs61753266	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:113795286G>A	uc001vsx.3	+	4	481	c.424G>A	c.(424-426)Gag>Aag	p.E142K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E142K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	142	EGF-like 2.		E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCTGCCACGAGGAACAGAA	0.612000														22			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442846	179442846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179442846C>T	uc021vsy.1	-	270	60917	c.60692G>A	c.(60691-60693)aGg>aAg	p.R20231K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R13926K|TTN_uc021vta.1_Missense_Mutation_p.R13859K|TTN_uc021vtb.1_Missense_Mutation_p.R13734K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21158	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCTCATCCTTATCGGAGT	0.413000														59			25		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844967	54844967	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:54844967A>T	uc002qfj.3	-	7	1433	c.1376T>A	c.(1375-1377)tTc>tAc	p.F459Y	LILRA4_uc002qfi.3_Missense_Mutation_p.F393Y	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	459						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AATCCCGAGGAACAGCAGGAC	0.562000														55			15		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:9264799G>A	uc001qvk.1	-	3	552	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000														33			14		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56351925	56351925	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:56351925G>A	uc003pcy.4	-	67	13263	c.13155C>T	c.(13153-13155)acC>acT	p.T4385T	DST_uc003pda.4_Silent_p.T81T	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6797					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			TTCCACATATGGTATCCCATT	0.438000														37			15		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33648215	33648215	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:33648215C>T	uc021ywr.1	+	31	4558	c.4334C>T	c.(4333-4335)aCc>aTc	p.T1445I		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1445					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGAACTTCACCCTGGACATG	0.607000														51			9		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184571773	184571773	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184571773T>A	uc021xik.1	+	10	1038	c.950T>A	c.(949-951)tTa>tAa	p.L317*	VPS8_uc003fpb.1_Nonsense_Mutation_p.L315*|VPS8_uc010hyd.1_Nonsense_Mutation_p.L315*	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	317							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGTTTTCATTATTGGCCATG	0.378000														20			9		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062252	216062252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216062252C>T	uc001hku.1	-	40	8126	c.7739G>A	c.(7738-7740)gGa>gAa	p.G2580E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2580	Fibronectin type-III 12.				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)		AGTGACATTTCCAGGAGTTCT	0.418000										HNSCC(13;0.011)				99			108		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155150499	155150499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:155150499G>A	uc001fhs.1	+	5	1014	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.E311K|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.E185K|TRIM46_uc001fhu.1_Missense_Mutation_p.E288K|TRIM46_uc009wpg.1_Missense_Mutation_p.E298K|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	311						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGGCCAAGGAGGAGGTGTC	0.612000														31			23		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216173835	216173835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216173835G>A	uc001hku.1	-	32	6782	c.6395C>T	c.(6394-6396)tCc>tTc	p.S2132F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2132	Fibronectin type-III 7.				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)		TAGGACCCAGGAACTGTTTGT	0.453000										HNSCC(13;0.011)				46			36		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793046	143793046	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143793046G>A	uc011kty.2	+	0	846	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTTTCAACCCGATCCTGAACC	0.468000														271			101		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33851728	33851728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:33851728G>A	uc002xbu.2	+	4	955	c.952G>A	c.(952-954)Gat>Aat	p.D318N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	318					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCCAGGACGATCTCCAGGG	0.637000														22			7		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47361202	47361202	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:47361202C>T	uc003crd.3	+	1	315	c.189C>T	c.(187-189)ttC>ttT	p.F63F	KLHL18_uc003crc.2_Silent_p.F63F|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	63										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCCGTATTTCCATGCTATGT	0.448000														119			51		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638362	16638362	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16638362A>C	uc002gqk.1	+	11	2853	c.2777A>C	c.(2776-2778)gAc>gCc	p.D926A	CCDC144A_uc002gql.1_Missense_Mutation_p.D396A|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	926																	GCTGTACGTGACTGTGATCAA	0.388000														16			12		0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59146706	59146706	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59146706C>T	uc002afj.3	+	8	1965	c.1763C>T	c.(1762-1764)cCa>cTa	p.P588L	FAM63B_uc002afi.3_Missense_Mutation_p.P587L|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	588										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAAGCCTCTCCATCAAGTGGA	0.373000														50			21		0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	129527	129527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:129527C>T	uc002cfn.3	+	2	461	c.143C>T	c.(142-144)tCg>tTg	p.S48L	MPG_uc002cfm.3_Missense_Mutation_p.S31L|MPG_uc010bqp.3_Missense_Mutation_p.S31L|MPG_uc002cfo.3_Missense_Mutation_p.S43L	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	48					DNA dealkylation involved in DNA repair|depurination	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACACAGCTCGTCCGATGCA	0.657000								Base excision repair (BER), DNA glycosylases						43			19		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417721	116417721	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:116417721G>A	uc021pyx.1	-	0	338	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ABLIM1_uc021pyw.1_Missense_Mutation_p.P80L|ABLIM1_uc021pyy.1_Intron|ABLIM1_uc021pyz.1_Intron|ABLIM1_uc021pza.1_Intron|ABLIM1_uc021pzf.1_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	80					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTACCAAAAGGATCAACGCT	0.443000														87			31		0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105748	233105748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:233105748C>T	uc001hvj.1	+	3	475	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	NTPCR_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	130							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						TCAAGCTGTTCGTCAGACGCT	0.498000														127			22		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498857	216498857	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:216498857G>A	uc001hku.1	-	5	1320	c.933C>T	c.(931-933)gtC>gtT	p.V311V	USH2A_uc001hkv.3_Silent_p.V311V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	311	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)		CCAAAGGGTGGACCCGCGGGT	0.522000										HNSCC(13;0.011)				74			25		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109052816	109052816	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:109052816C>T	uc003dxq.4	-	1	134	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DPPA4_uc011bho.2_Missense_Mutation_p.E27K|DPPA4_uc011bhp.1_Missense_Mutation_p.E27K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	27						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATCCTCTTCCCTCGACTTC	0.458000														60			27		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182550423	182550423	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:182550423G>A	uc009wxz.2	-	4	2099	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	RNASEL_uc001gpk.3_Silent_p.I614I	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	614	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GTAGTCTGAGGATCTCACTTT	0.428000														133			118		0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135286957	135286957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:135286957G>A	uc003lbe.1	-	2	445	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	FBXL21_uc003lbc.3_Non-coding_Transcript	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	82					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTTGTTTTGATAAGGTTTC	0.478000														53			23		0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114398994	114398994	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:114398994C>T	uc002tks.4	+	7	615	c.474C>T	c.(472-474)ttC>ttT	p.F158F	RABL2A_uc002tkn.4_Silent_p.F157F|RABL2A_uc010flb.3_Silent_p.F157F|RABL2A_uc002tkm.4_Silent_p.F94F|RABL2A_uc002tkr.3_Silent_p.F158F|RABL2A_uc002tkp.4_Silent_p.F158F	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	157					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCTGTATTTCGTCTCGGCTG	0.498000														83			26		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486133	118486133	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:118486133C>T	uc010oxe.1	+	10	1278	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	404						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTCAGCCTGTCAGGACAAGCA	0.478000														58			28		0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12198955	12198955	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:12198955C>T	uc001ile.2	+	7	813	c.666C>T	c.(664-666)acC>acT	p.T222T	SEC61A2_uc010qbq.1_Silent_p.T200T|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Silent_p.T222T	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	222						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TGTTGGCCACCAGGACGGACA	0.468000														91			37		0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992721	67992721	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:67992721C>T	uc002lkr.1	+	1	1133	c.817C>T	c.(817-819)Cta>Tta	p.L273L	SOCS6_uc010dqq.2_Silent_p.L273L|SOCS6_uc021ulj.1_Silent_p.L273L	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	273					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AGACCAGGACCTAGTTGTCGC	0.572000														90			39		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172857	51172857	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:51172857G>A	uc021tif.1	-	1	3307	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	SALL1_uc021tid.1_Silent_p.F995F|SALL1_uc021tie.1_Silent_p.F1092F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1092					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R995W(2)|p.R995Q(1)		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)			AAACATGCACGAAGCCGTTGA	0.567000														48			15		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887719	71887719	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71887719G>A	uc010fen.3	+	44	5082	c.4941G>A	c.(4939-4941)ggG>ggA	p.G1647G	DYSF_uc010fei.3_Silent_p.G1625G|DYSF_uc010feh.3_Silent_p.G1615G|DYSF_uc002sig.4_Silent_p.G1594G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G1639G|DYSF_uc010fee.3_Silent_p.G1629G|DYSF_uc010fef.3_Silent_p.G1646G|DYSF_uc002sie.3_Silent_p.G1608G|DYSF_uc010feo.3_Silent_p.G1640G|DYSF_uc010fej.3_Silent_p.G1616G|DYSF_uc010fel.3_Silent_p.G1595G|DYSF_uc010fem.3_Silent_p.G1630G|DYSF_uc002sif.3_Silent_p.G1609G|DYSF_uc010fek.3_Silent_p.G1626G|DYSF_uc010yqy.2_Silent_p.G489G|DYSF_uc010yqz.2_Silent_p.G369G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1608	C2 5.					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						TCTCCATAGGGAAGAAATCAG	0.483000														55			21		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304141	41304141	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41304141C>T	uc001cgh.2	+	13	2116	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	KCNQ4_uc001cgi.2_Silent_p.S624S	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	678					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGACATCTCCGTCTCCGCAC	0.672000														83			32		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156518	22156518	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:22156518G>A	uc021urr.1	-	3	1467	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378000														55			24		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138849	126138849	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:126138849G>A	uc001uhe.1	+	8	2838	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D456N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	944						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)		CCATTCCCACGACTGGGTCTG	0.517000														77			22		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592943	156592943	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156592943G>A	uc003lwn.3	-	0	337	c.237C>T	c.(235-237)ccC>ccT	p.P79P		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	79						nucleus		p.P79H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGGAGGATGGGGCTGGTGC	0.517000														79			25		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153924272	153924272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:153924272G>A	uc004fmk.1	-	7	1498	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	GAB3_uc004fmj.1_Missense_Mutation_p.P483S|GAB3_uc010nve.1_Missense_Mutation_p.P484S|GAB3_uc004fml.1_Missense_Mutation_p.P103S	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	483										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTCTTTCTGGAGAGAGAAAG	0.383000														21			16		0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33117641	33117641	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:33117641A>G	uc001bvr.3	+	1	302	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	ZBTB8OS_uc001bvo.1_5'Flank|ZBTB8OS_uc001bvp.3_5'Flank|ZBTB8OS_uc001bvq.3_5'Flank|RBBP4_uc001bvs.3_Missense_Mutation_p.Q47R|RBBP4_uc010ohj.2_5'UTR|RBBP4_uc010ohk.2_Missense_Mutation_p.Q13R	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	48					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTAACTGCCCAGTGGCTTCCA	0.418000														88			28		0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703334	98703334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:98703334G>A	uc003yhz.3	+	5	1294	c.966G>A	c.(964-966)tgG>tgA	p.W322*	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	322					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CATCTGCCTGGAGTCAAGACA	0.453000														45			36		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2866754	2866754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2866754G>A	uc010ckd.3	+	5	367	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E78K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	93					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGCATCGACGAGGTAGGTGC	0.622000														114			39		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389465	48389465	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:48389465C>T	uc001jez.3	-	0	1527	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	471	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGAGGTGCTCCGTGTCCTGTA	0.647000														26			7		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128456	51128456	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51128456G>A	uc002pst.3	-	6	2304	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	SYT3_uc002psv.3_Missense_Mutation_p.P557L|SYT3_uc010ycd.2_Missense_Mutation_p.P557L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	557						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCTTGCGGGGATTGGCCAG	0.682000														3			3		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969873	241969873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:241969873G>A	uc002wah.1	+	1	386	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	129	NIDO.				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)		ATGCTGCGCCGAGCCACGGAG	0.632000														12			6		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058189	43058189	+	Missense_Mutation	SNP	C	T	T	rs150776703		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:43058189C>T	uc002xma.3	+	9	1398	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	HNF4A_uc002xlu.3_Missense_Mutation_p.P405S|HNF4A_uc002xlv.3_Missense_Mutation_p.P415S|HNF4A_uc010ggq.3_Missense_Mutation_p.P430S|HNF4A_uc002xlz.3_Missense_Mutation_p.P427S	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	437					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACAGCCCTCACCGCCAGGTGG	0.612000														124			41		0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226178	42226178	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:42226178C>T	uc002ifi.2	+	2	1244	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	C17orf53_uc010czq.2_Missense_Mutation_p.P336L|C17orf53_uc002ifj.2_Missense_Mutation_p.P336L|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	336										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGATTATTTCCTCGGATACCC	0.517000														199			91		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816125	82816125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:82816125G>A	uc003kii.3	+	6	2356	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G667E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	667	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTAGTAGAGGGAATTTCCACA	0.338000														50			24		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552455	100552455	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100552455C>T	uc003uxl.1	+	0	1706	c.906C>T	c.(904-906)tcC>tcT	p.S302S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTCCAGTTCCACTGGCACTG	0.493000														167			49		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64202232	64202232	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:64202232T>C	uc002lkc.1	-	7	1465	c.1327A>G	c.(1327-1329)Aca>Gca	p.T443A	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.T443A|CDH19_uc002lkd.3_Missense_Mutation_p.T443A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T443T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATTTTTCTGTGGCTGTAATA	0.328000														34			12		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067256	11067256	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11067256T>G	uc010hdq.3	+	7	1247	c.836T>G	c.(835-837)cTg>cGg	p.L279R		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	279					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)	TTCCGCAAGCTGTCTGACTCC	0.552000														22			8		0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183233	11183233	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:11183233G>A	uc001qzo.1	-	0	774	c.702C>T	c.(700-702)ttC>ttT	p.F234F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	234					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						ATAACAAGAGGAAAAAGATCA	0.403000														214			87		0	0	1	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231995	142231995	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142231995C>T	uc003vyh.2	-	0	126	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGACAAAGGGCCACATAGAAG	0.582000														42			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106878027	106878027	+	RNA	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106878027A>G	uc021ser.1	-	408		c.12980T>C								Parts of antibodies, mostly variable regions.																		AGCCGCCACCAGCAGGAGGAA	0.488000														8			6		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604014	95604014	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:95604014G>A	uc001tdp.4	-	1	1270	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	349	Poly-Ser.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTAAGACAGGAAGAGCTACT	0.403000														88			39		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55062972	55062972	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:55062972C>T	uc021qjb.1	-	2		c.666G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		GGCACATTTTCTTCAGATCCT	0.438000														23			15		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053683	67053683	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:67053683G>A	uc003dmy.3	+	2	345	c.292G>A	c.(292-294)Gct>Act	p.A98T	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	98	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGGTGTTGAAGCTGAATCGAT	0.413000														121			49		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237200	22237200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22237200G>A	uc001wbt.1	+	1	284	c.277G>A	c.(277-279)Gag>Aag	p.E93K	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		ACGTGAAAATGAGAAAGAAAA	0.443000														72			33		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60551375	60551375	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:60551375G>A	uc002ybs.3	-	14	3107	c.3107C>T	c.(3106-3108)tCa>tTa	p.S1036L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	1036					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGGGACCACTGAGCCGGGGCC	0.552000														112			38		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799927	39799927	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:39799927C>T	uc021olw.1	+	0	2987	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2561					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			GAAAATATTTCCCTCCCTAAA	0.368000														41			23		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52842644	52842644	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52842644G>A	uc001sak.3	-	5	1233	c.1185C>T	c.(1183-1185)atC>atT	p.I395I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	395	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGACGTGGTCGATCTCAGATC	0.488000														60			23		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500931	33500931	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:33500931C>T	uc021vft.1	+	17	2956	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	LTBP1_uc002rou.3_Missense_Mutation_p.A652V|LTBP1_uc002rov.3_Missense_Mutation_p.A599V|LTBP1_uc010ymz.2_Missense_Mutation_p.A652V|LTBP1_uc010yna.2_Missense_Mutation_p.A599V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	978	EGF-like 6; calcium-binding (Potential).				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)				ACTGTGGGGGCCTTCCGGTGT	0.542000														90			33		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378734	31378734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:31378734C>T	uc003tch.3	-	1	502	c.149G>A	c.(148-150)aGg>aAg	p.R50K	NEUROD6_uc022abi.1_Missense_Mutation_p.R50K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	50					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						tccAGGGGCCCTTTTGATGCT	0.443000														110			43		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011391	34011391	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:34011391G>A	uc002yqh.2	-	30	3859	c.3859C>T	c.(3859-3861)Cct>Tct	p.P1287S	SYNJ1_uc011ads.1_Missense_Mutation_p.P1201S|SYNJ1_uc002yqf.2_Missense_Mutation_p.P1232S|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1201S|SYNJ1_uc002yqi.2_Missense_Mutation_p.P1287S|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1248	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTGCGGAGGAAAAGCAGCC	0.488000														100			34		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218594	100218594	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100218594G>A	uc003uvv.1	-	17	2361	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	TFR2_uc010lhc.1_Silent_p.S305S|TFR2_uc003uvu.1_Silent_p.S593S	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	764					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGCCAGTGGAGGAGGTGG	0.667000														15			6		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026024	189026024	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:189026024C>G	uc011cle.1	-	1	474	c.252G>C	c.(250-252)ttG>ttC	p.L84F	TRIML2_uc003izl.2_Missense_Mutation_p.L34F|TRIML2_uc011clf.1_Missense_Mutation_p.L84F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	34							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTCATCAGTCAATATGCTTT	0.383000														66			5		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240019	27240019	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:27240019A>T	uc002hdg.1	-	8	2100	c.1570T>A	c.(1570-1572)Tct>Act	p.S524T	PHF12_uc010wbb.1_Missense_Mutation_p.S506T|PHF12_uc002hdi.1_Missense_Mutation_p.S520T|PHF12_uc002hdj.1_Missense_Mutation_p.S524T|PHF12_uc010crw.1_Missense_Mutation_p.S227T|PHF12_uc002hdh.1_Missense_Mutation_p.S307T	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	524	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCCGCACAAGAACTGCAGCCG	0.572000														72			33		0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47761815	47761815	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:47761815G>A	uc010xym.2	+	3	211	c.4_splice	c.e3-1	p.A2_splice		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	2										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCGGTCTCAGGCAGCCACAC	0.562000														71			32		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283618	40283618	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:40283618G>A	uc003ayg.3	-	1	386	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	45	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AAATTGTGTTGAAAGTCAAGT	0.423000														102			38		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18238593	18238593	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:18238593C>T	uc001rdq.3	-	3	341	c.147G>A	c.(145-147)agG>agA	p.R49R		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	49	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTAGTTGTTTCCTTTCCAAAC	0.284000														35			14		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431261	117431261	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:117431261G>A	uc003vjf.3	-	3	2081	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	663										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGAGCAAAAGGCAATGGTGG	0.537000														47			35		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8075622	8075622	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:8075622G>A	uc001aoz.3	-	1	307	c.58C>T	c.(58-60)Cta>Tta	p.L20L	ERRFI1_uc001apa.1_5'UTR	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	20					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCATTATGTAGAAATCCAGTT	0.468000														234			78		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961150	1961150	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:1961150C>T	uc010gaj.3	-	2	826	c.584G>A	c.(583-585)gGg>gAg	p.G195E	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G195E|PDYN_uc021vzt.1_Missense_Mutation_p.G195E|PDYN_uc021vzu.1_Missense_Mutation_p.G195E|PDYN_uc002wfv.3_Missense_Mutation_p.G195E	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATGCTATCCCCGTCCCCCTC	0.592000														74			39		0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14943503	14943503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:14943503G>A	uc001rci.3	-	9	1357	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	399	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TATCTGAGAAGGAGGAACAGA	0.557000														58			27		0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148929728	148929728	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:148929728A>G	uc003lqw.1	-	1	620	c.140T>C	c.(139-141)cTa>cCa	p.L47P	CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Missense_Mutation_p.L47P|CSNK1A1_uc003lqy.1_Missense_Mutation_p.L47P|CSNK1A1_uc010jha.1_Missense_Mutation_p.L47P	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	47	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CTGAGATTCTAGCTTCACTGC	0.502000														80			28		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303134	151303134	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:151303134C>T	uc022cgz.1	-	0	959	c.959G>A	c.(958-960)gGg>gAg	p.G320E	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G320E|MAGEA10_uc004ffm.2_Missense_Mutation_p.G320E|MAGEA10_uc004ffl.3_Missense_Mutation_p.G320E	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	320	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATCACTCCCATTTACCTT	0.493000														105			53		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52371081	52371081	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:52371081T>A	uc003joy.3	+	22	2915	c.2772T>A	c.(2770-2772)aaT>aaA	p.N924K	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.N848K|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	924					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.D923N(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGGCTGATAATTTGGTCAACC	0.368000														38			18		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730271	93730271	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:93730271G>A	uc001ybo.3	-	3	1557	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Missense_Mutation_p.H60Y|BTBD7_uc001ybq.4_Missense_Mutation_p.H326Y	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	411										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCATATGGATGAGAACTCCAC	0.408000														63			24		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812989	14812989	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:14812989C>T	uc003zlm.3	-	16	3530	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	905					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)		GACCACCTCTCCTCCCTCTGA	0.463000														118			48		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244974	6244974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:6244974G>A	uc001mck.4	-	2	1002	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	FAM160A2_uc001mcl.4_Missense_Mutation_p.R215C|FAM160A2_uc001mcm.2_Missense_Mutation_p.R215C	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	215					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGACAAGGCGAGAAAAGAGA	0.602000														74			38		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8565084	8565084	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:8565084G>A	uc004csf.3	-	3	682	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	178					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CCTTTGTACAGAGTCTTGGGT	0.502000														18			7		0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143074	49143074	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:49143074C>T	uc002pjz.1	-	4	1100	c.538G>A	c.(538-540)Ggc>Agc	p.G180S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	180						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		ATGGCCAGGCCATTGGGGCCG	0.627000														100			25		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996643	98996643	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:98996643C>T	uc010fij.3	+	3	374	c.233C>T	c.(232-234)tCg>tTg	p.S78L	CNGA3_uc002syt.3_Missense_Mutation_p.S74L|CNGA3_uc002syu.3_Missense_Mutation_p.S74L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	74					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCAGGCTGTCGCGCCTCATC	0.607000														56			17		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163124007	163124007	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:163124007G>A	uc002uce.3	-	14	3102	c.2880C>T	c.(2878-2880)atC>atT	p.I960I		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	960					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTTGCAGATGATTTCACCAT	0.368000														81			26		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505828	128505828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:128505828C>T	uc003qbk.3	-	6	1278	c.911G>A	c.(910-912)gGg>gAg	p.G304E	PTPRK_uc010kfc.3_Missense_Mutation_p.G304E|PTPRK_uc003qbj.3_Missense_Mutation_p.G304E|PTPRK_uc011ebu.2_Missense_Mutation_p.G304E|PTPRK_uc003qbl.1_Missense_Mutation_p.G174E|PTPRK_uc011ebv.1_Missense_Mutation_p.G304E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	304	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATATGTAGGCCCAACACCAAG	0.423000														58			38		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63850793	63850793	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:63850793C>T	uc001jlt.2	+	9	2027	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	ARID5B_uc001jlu.2_Missense_Mutation_p.S281F	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	524					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCAAGGTTCCAACAGTGAG	0.532000														57			19		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898372	12898372	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:12898372G>A	uc002gnz.4	-	19	1933	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	ELAC2_uc002gnu.4_Missense_Mutation_p.P3S|ELAC2_uc002gnv.4_Missense_Mutation_p.P234S|ELAC2_uc002gnx.4_Missense_Mutation_p.P366S|ELAC2_uc010vvo.2_Missense_Mutation_p.P404S|ELAC2_uc010vvp.2_Missense_Mutation_p.P587S|ELAC2_uc010vvq.2_Missense_Mutation_p.P605S|ELAC2_uc010vvr.2_Missense_Mutation_p.P566S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	606					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CATTTGGCAGGAATCATACTG	0.418000														130			52		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26851265	26851265	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:26851265A>G	uc001iss.3	+	13	1701	c.1380A>G	c.(1378-1380)acA>acG	p.T460T		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	460					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GACCTAAAACAGGCACCACCC	0.453000														222			96		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151813	3151813	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3151813C>T	uc002lxf.2	+	3	852	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	198					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACTGCTTCTCCGTGCAGAAAA	0.652000														54			14		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349370	101349370	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:101349370C>T	uc010txj.1	-	0	1815	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MIR127_uc001yig.3_Non-coding_Transcript|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	586										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGAAAGATCATCGGATCCG	0.562000														34			10		0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178326706	178326706	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:178326706C>T	uc002ull.2	+	8	1003	c.956C>T	c.(955-957)tCa>tTa	p.S319L	AGPS_uc010zfb.1_Missense_Mutation_p.S229L	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	319	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACTCGCGCATCAGGCATGAAG	0.328000														61			13		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679905	44679905	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:44679905T>G	uc002oys.3	+	5	670	c.490T>G	c.(490-492)Ttt>Gtt	p.F164V	ZNF226_uc002oyp.3_Missense_Mutation_p.F164V|ZNF226_uc002oyq.3_Missense_Mutation_p.F47V|ZNF226_uc002oyr.3_Missense_Mutation_p.F47V|ZNF226_uc002oyt.3_Missense_Mutation_p.F164V	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GAATCCAGAGTTTCCTATCTT	0.373000														23			11		0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44063392	44063392	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:44063392G>C	uc001zsu.3	+	12	1642	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N	PDIA3_uc010bdp.3_Missense_Mutation_p.K478N|PDIA3_uc010ued.2_Missense_Mutation_p.K272N	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	498					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CCAAGAAGAAGAAGAAGGCAC	0.433000														35			7		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31115633	31115633	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:31115633G>A	uc009yjk.1	-	3	495	c.426C>T	c.(424-426)atC>atT	p.I142I	DCDC5_uc009yjl.1_Silent_p.I70I|DCDC5_uc001msu.2_Silent_p.I313I	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction			p.Y142H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CAGGCCACAGGATCGATGGCG	0.517000														42			15		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886266	29886266	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:29886266A>G	uc003afo.3	+	3	2708	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	885	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGAAGGAACCTGCTGTCG	0.517000														12			4		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487537	142487537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:142487537G>A	uc003ywi.2	-	11	1492	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	471							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCCTGCTGGCGACTCCGCGTG	0.652000														25			12		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605505	171605505	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:171605505C>T	uc001ghu.3	-	2	1097	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	MYOC_uc010pmk.2_Missense_Mutation_p.E301K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	359	Olfactomedin-like.				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)					CCAGGGATTTCCTTCTCAGCC	0.537000														62			61		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291877	22291877	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:22291877C>T	uc004dai.2	+	0	848	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	257	Pro-rich.					intracellular	zinc ion binding	p.P256H(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GCCAACACCTCCCGACTATTA	0.428000														133			81		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242034	24242034	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:24242034C>T	uc003xdz.2	+	0	237	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	6					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CGTGGGATCTCCCAGCTACCT	0.458000														20			7		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184093374	184093374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:184093374C>T	uc003fol.1	-	3	372	c.157G>A	c.(157-159)Gtt>Att	p.V53I	THPO_uc003fom.2_Missense_Mutation_p.V53I|THPO_uc021xii.1_Missense_Mutation_p.V53I|THPO_uc003fon.3_Missense_Mutation_p.V53I|THPO_uc011bro.2_Missense_Mutation_p.V53I|THPO_uc003fop.3_Missense_Mutation_p.V53I|THPO_uc011brp.2_Missense_Mutation_p.V53I|THPO_uc011brq.2_Missense_Mutation_p.V53I|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.V53I|THPO_uc003fou.1_Missense_Mutation_p.V53I	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	53					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGGGTGAACCTCTGGGCAC	0.512000														40			16		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249009	20249009	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:20249009T>C	uc010tku.2	+	0	528	c.528T>C	c.(526-528)agT>agC	p.S176S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D175N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTTAGACAGTTACTTCTGTG	0.493000														263			64		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41493903	41493903	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:41493903G>A	uc001cgo.3	-	15	2315	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	SCMH1_uc010ojr.2_Missense_Mutation_p.S469F|SCMH1_uc001cgp.3_Missense_Mutation_p.S588F|SCMH1_uc001cgr.3_Missense_Mutation_p.S566F|SCMH1_uc001cgq.3_Missense_Mutation_p.S580F|SCMH1_uc001cgs.3_Missense_Mutation_p.S637F|SCMH1_uc001cgt.3_Missense_Mutation_p.S566F|LOC100507178_uc021omd.1_Intron	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	649	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGTGGTAGGAGAGCTTGAG	0.587000														64			23		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108712202	108712202	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:108712202G>A	uc001pkm.3	+	15	2312	c.2247_splice	c.e15+1	p.R749_splice	DDX10_uc001pkl.1_Splice_Site_p.R749_splice	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	749							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)		GCAAAGCATCGGGTAAGCTTT	0.313000			T	NUP98	AML*									15			9		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169354194	169354194	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:169354194C>T	uc021xuh.1	-	9	1477	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	DDX60L_uc003irq.4_Missense_Mutation_p.G456E|DDX60L_uc003irr.1_Missense_Mutation_p.G456E|DDX60L_uc003irs.1_Missense_Mutation_p.G183E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	456							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)		CATCATATCTCCAACAAACTC	0.348000														9			5		0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850431	37850431	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:37850431C>T	uc004ddt.4	+	0	362	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	113							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						TGCCCAAATCCAGGAAGAATG	0.498000														11			10		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695621	196695621	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196695621C>T	uc001gtj.4	+	12	2135	c.1895C>T	c.(1894-1896)cCa>cTa	p.P632L	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	632	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCATGTGGTCCACCTCCTGAA	0.313000														46			16		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635376	122635376	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122635376T>G	uc003vkl.1	-	0	379	c.313A>C	c.(313-315)Atc>Ctc	p.I105L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	105					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						GAGACCTTGATGCAGTAGAAC	0.373000														42			19		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513255	1513255	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:1513255G>A	uc003skn.2	-	41	6005	c.5904C>T	c.(5902-5904)acC>acT	p.T1968T		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1968					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGCATTGTAGGTAATGTACT	0.582000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			6		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554702	140554702	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140554702C>T	uc003lit.3	+	0	2460	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	762					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAATGAGTTCAAGTTTCTGA	0.507000														66			24		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69112244	69112244	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:69112244G>A	uc003dno.3	-	8	602	c.582C>T	c.(580-582)tcC>tcT	p.S194S	UBA3_uc003dnq.3_Silent_p.S180S|UBA3_uc011bfy.2_Silent_p.S17S|UBA3_uc011bfz.2_Silent_p.S17S	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	194	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGGGACAATGGAGCTTGGAT	0.413000														74			25		0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167937622	167937622	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:167937622C>T	uc003lzx.3	+	11	1424	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R	RARS_uc011deo.2_Silent_p.R255R	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	461					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AAACAGTGCGCCTCATGGATC	0.363000														20			8		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062950	76062950	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:76062950C>T	uc003ufd.4	+	3	709	c.699C>T	c.(697-699)atC>atT	p.I233I	ZP3_uc003ufc.4_Silent_p.I182I|ZP3_uc003ufe.3_Silent_p.I141I	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	233	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATCACACCATCGTGGACTTCC	0.552000														62			21		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627839	37627839	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:37627839C>T	uc010cvv.3	+	1	2340	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	CDK12_uc010wef.1_Missense_Mutation_p.P584L|CDK12_uc002hrw.4_Missense_Mutation_p.P585L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	585					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCAACTTTGCCCCCTTCTACT	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				172			77		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118796	29118796	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:29118796T>C	uc002kwu.4	+	11	1922	c.1734T>C	c.(1732-1734)ttT>ttC	p.F578F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	578					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATCAGGGTTTTAGTTGTCCTG	0.498000														65			25		0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104569810	104569810	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:104569810C>T	uc001kwf.4	+	3	439	c.355_splice	c.e3+1	p.R119_splice	WBP1L_uc009xxg.1_Splice_Site|WBP1L_uc001kwe.4_Splice_Site_p.R98_splice	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA.	98	Pro-rich.					integral to membrane											CATTTTATTTCAGTACGTACA	0.567000														73			33		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034380	20034380	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:20034380G>A	uc010nfo.2	-	10	1593	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	MAP7D2_uc004czq.2_Silent_p.A336A|MAP7D2_uc011mji.2_Silent_p.A399A|MAP7D2_uc004czr.2_Silent_p.A451A|MAP7D2_uc011mjj.2_Silent_p.A406A	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	451										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cctgctttcgggcttcctctt	0.488000														21			7		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1032271	1032271	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:1032271T>C	uc003jbt.1	+	3	151	c.146T>C	c.(145-147)cTg>cCg	p.L49P	NKD2_uc010itf.1_Missense_Mutation_p.L49P	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	49	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCAGGAGCTGCCCAATGGG	0.662000														63			36		0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392635	22392635	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:22392635G>A	uc010aiz.2	+	1	233	c.158G>A	c.(157-159)gGt>gAt	p.G53D	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		CAAAGTTATGGTCTATTCTGG	0.448000														95			35		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506143	149506143	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:149506143G>A	uc003lro.3	-	10	2083	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	PDGFRB_uc010jhd.3_Silent_p.I377I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	538					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGGCCAGGATGGCTGAGA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									43			9		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7522042C>T	uc010sge.2	-	14	4006	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	CD163L1_uc001qsy.3_Missense_Mutation_p.G1317E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.H1326N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000														81			31		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227539	35227539	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:35227539A>T	uc001bxw.4	+	0	684	c.684A>T	c.(682-684)gaA>gaT	p.E228D	GJB4_uc001bxv.1_Missense_Mutation_p.E228D	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	228					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGTGCCGGGAATGCCTACCCG	0.617000														50			9		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723760	142723760	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:142723760A>C	uc003wcc.1	-	0	460	c.460T>G	c.(460-462)Tgg>Ggg	p.W154G		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	154					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)					TAGATGGGCCAGATTTCAGAA	0.418000														92			36		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689819	32689819	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:32689819C>T	uc010ezu.3	+	24	5318	c.5184C>T	c.(5182-5184)ttC>ttT	p.F1728F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1728					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACAGCTTTTCCCAGGCTCAG	0.433000														59			32		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235198	100235198	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100235198C>T	uc003hus.4	-	5	692	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ADH1B_uc003hut.4_Missense_Mutation_p.G163E|ADH1B_uc011ceh.2_Missense_Mutation_p.G48E|ADH1B_uc011cei.1_Missense_Mutation_p.G163E	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGGCCGACCCCTCCCAGGCC	0.473000														239			95		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587279	55587279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:55587279C>T	uc010qhy.1	-	32	4651	c.4256G>A	c.(4255-4257)cGa>cAa	p.R1419Q	PCDH15_uc010qhq.2_Missense_Mutation_p.R1419Q|PCDH15_uc010qhr.2_Missense_Mutation_p.R1414Q|PCDH15_uc021pqv.1_Missense_Mutation_p.R1414Q|PCDH15_uc021pqw.1_Missense_Mutation_p.R1426Q|PCDH15_uc010qht.2_Missense_Mutation_p.R1421Q|PCDH15_uc021pqx.1_Missense_Mutation_p.R1414Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1414Q|PCDH15_uc021pqz.1_Missense_Mutation_p.R1389Q|PCDH15_uc010qhv.1_Missense_Mutation_p.R1411Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R1374Q|PCDH15_uc010qhx.1_Missense_Mutation_p.R1343Q|PCDH15_uc010qhz.1_Missense_Mutation_p.R1414Q|PCDH15_uc010qia.1_Missense_Mutation_p.R1392Q|PCDH15_uc001jju.1_Missense_Mutation_p.R1414Q|PCDH15_uc010qib.1_Missense_Mutation_p.R1389Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1414					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1414Q(2)|p.R1419Q(1)|p.R1416Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGAATTCGTGCAGTCTT	0.542000										HNSCC(58;0.16)				50			25		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368577	111368577	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:111368577C>T	uc003dxw.3	+	14	1852	c.1682C>T	c.(1681-1683)cCa>cTa	p.P561L	CD96_uc003dxx.3_Missense_Mutation_p.P545L|CD96_uc010hpy.1_Missense_Mutation_p.P544L	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	561	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGCCACCACCACCTCCCATC	0.468000									Opitz Trigonocephaly syndrome					87			38		0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479691	27479691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:27479691G>A	uc002rjk.3	-	5	1034	c.848C>T	c.(847-849)cCc>cTc	p.P283L	SLC30A3_uc002rjj.3_Missense_Mutation_p.P129S|SLC30A3_uc010ylh.2_Missense_Mutation_p.P278L	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	283					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGAGGGTGGGAGCGGTGGA	0.587000														28			11		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62837080	62837080	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62837080G>A	uc002yii.3	+	5	688	c.324G>A	c.(322-324)tcG>tcA	p.S108S	MYT1_uc002yih.3_Silent_p.S108S|MYT1_uc002yij.3_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	108					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGGATGAATCGGAAGGAACTC	0.592000														25			14		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521038	40521038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:40521038C>T	uc002oms.2	+	6	2117	c.1861C>T	c.(1861-1863)Caa>Taa	p.Q621*	ZNF546_uc002omt.2_Nonsense_Mutation_p.Q595*	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCGATTTCAAACAGAACT	0.363000														32			18		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063089	55063089	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:55063089G>A	uc001cxm.2	+	7	940	c.764_splice	c.e7+1	p.S255_splice	ACOT11_uc001cxj.2_Splice_Site_p.S133_splice|ACOT11_uc001cxk.3_Silent_p.R221R|ACOT11_uc001cxl.2_Splice_Site_p.S255_splice	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	255	Acyl coenzyme A hydrolase 2.			S -> R (in Ref. 7; AAH01517).	fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TTGCAGCCAGGTGAGGGCAGG	0.632000														12			5		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633147	80633147	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:80633147T>G	uc001szd.3	+	9	959	c.953T>G	c.(952-954)tTt>tGt	p.F318C		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.P317R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTTGCAGTTTCCTTTTCTG	0.353000														58			26		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24718782	24718782	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:24718782G>A	uc003swx.3	+	10	1446	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	MPP6_uc003swy.3_Missense_Mutation_p.D383N	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	383	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGATGAAAAAGATGGCCAGGC	0.338000														88			22		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171247945	171247945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:171247945C>T	uc009wvz.3	+	4	698	c.562C>T	c.(562-564)Ctt>Ttt	p.L188F	FMO1_uc010pme.2_Missense_Mutation_p.L125F|FMO1_uc001ghl.3_Missense_Mutation_p.L188F|FMO1_uc001ghm.3_Missense_Mutation_p.L188F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	188					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			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)					CAAGAGAGTCCTTGTGATTGG	0.418000														42			36		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877907	4877907	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:4877907C>T	uc001ihi.3	+	3	480	c.365C>T	c.(364-366)tCc>tTc	p.S122F	AKR1E2_uc010qam.1_Missense_Mutation_p.S83F|AKR1E2_uc001ihh.1_Missense_Mutation_p.S122F|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.S122F|AKR1E2_uc009xhw.3_Missense_Mutation_p.S122F	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	122						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGTGAACTTTCCTTCTGCCTC	0.483000														36			13		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48387023	48387023	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:48387023C>T	uc002phr.2	-	1	296	c.156G>A	c.(154-156)gaG>gaA	p.E52E		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	52					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.E52D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GGCAGAGAATCTCAGCCAACC	0.488000														36			18		0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131902504	131902504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:131902504G>A	uc003qcp.2	+	3	530	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	ARG1_uc003qco.2_Missense_Mutation_p.E151K|ARG1_uc010kfm.2_Missense_Mutation_p.E159K|MED23_uc003qcq.3_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.	151					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	CCTCCTGAAGGAACTAAAAGG	0.423000														9			7		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175682	143175682	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143175682C>T	uc003wdc.1	+	0	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCATCTCCTTCCTCATTCTTT	0.512000														58			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578626	179578626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179578626G>A	uc021vsy.1	-	88	23252	c.23027C>T	c.(23026-23028)tCa>tTa	p.S7676L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4337L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8603	Ig-like 59.						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)			CAACCAACCTGAAACCTGCAA	0.393000														25			21		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471539	121471539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:121471539G>A	uc001tzj.1	-	1	212	c.206C>T	c.(205-207)tCc>tTc	p.S69F	OASL_uc001tzk.1_Missense_Mutation_p.S69F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	69					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTCCCGAAGGAGCCCACCTG	0.597000														61			36		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129544	83129544	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:83129544C>T	uc004eei.1	+	3	1849	c.1828C>T	c.(1828-1830)Cct>Tct	p.P610S	CYLC1_uc004eeh.1_Missense_Mutation_p.P609S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	610	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCACCACTCCCTGCTTGTGA	0.448000														29			14		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905712	132905712	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:132905712C>T	uc002tti.3	-	6		c.1179G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						TCCTATTCATCAGGTGTTCTT	0.438000														15			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915250	176915250	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:176915250G>A	uc001glc.3	-	12	2273	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ASTN1_uc001glb.1_Silent_p.I687I|ASTN1_uc001gld.1_Silent_p.I687I|ASTN1_uc009wwx.1_Silent_p.I687I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	695	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane		p.I687L(1)		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						TGTAGTCCTCGATGCACCTAG	0.507000														63			13		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27543155	27543155	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:27543155C>T	uc001rht.2	+	8	1121	c.902C>T	c.(901-903)cCc>cTc	p.P301L	ARNTL2_uc001rhu.2_Missense_Mutation_p.P287L|ARNTL2_uc001rhv.2_Missense_Mutation_p.P253L|ARNTL2_uc001rhw.3_Missense_Mutation_p.P264L|ARNTL2_uc010sjp.2_Missense_Mutation_p.P264L|ARNTL2_uc009zji.2_Missense_Mutation_p.P267L|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	301					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)					GGATGCTTACCCAACTCAAAG	0.353000														59			21		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087276	39087276	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:39087276T>G	uc011aej.1	-	2	237	c.184A>C	c.(184-186)Aag>Cag	p.K62Q	KCNJ6_uc002ywo.2_Missense_Mutation_p.K62Q	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	62					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACATTGCACTTTCCGTCTTTC	0.502000														108			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057930	9057930	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9057930G>A	uc002mkp.3	-	2	29720	c.29516C>T	c.(29515-29517)aCc>aTc	p.T9839I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9841	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						TGAAGGTATGGTTATGGTTGT	0.478000														71			37		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41930299	41930299	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:41930299C>T	uc002iem.3	+	2	468	c.399C>T	c.(397-399)tcC>tcT	p.S133S	CD300LG_uc002iel.2_Intron|CD300LG_uc010czk.3_Silent_p.S133S|CD300LG_uc010wil.2_Intron|CD300LG_uc010czl.3_Intron	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	133						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCTCCCTCCCCTTCTCCCA	0.582000														104			38		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152569	166152569	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:166152569A>G	uc002udc.3	+	1	526	c.236A>G	c.(235-237)gAg>gGg	p.E79G	SCN2A_uc002udd.3_Missense_Mutation_p.E79G|SCN2A_uc002ude.3_Missense_Mutation_p.E79G	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	79					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)	GTGCCCCTGGAGGATCTGGAC	0.443000														43			14		0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185208	71185208	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:71185208C>T	uc002shj.3	+	2	294	c.207C>T	c.(205-207)acC>acT	p.T69T	ATP6V1B1_uc002shi.1_Silent_p.T69T|ATP6V1B1_uc010fdx.3_Silent_p.T27T	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	69					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCACTTCACCCTCCCAGATG	0.592000														18			5		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788299	68788299	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:68788299C>T	uc021xag.1	-	4	831	c.338G>A	c.(337-339)gGa>gAa	p.G113E	FAM19A4_uc021xah.1_Missense_Mutation_p.G113E	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	113						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACAATCCTCTCCTTCCAAACA	0.408000														143			48		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284079	43284079	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:43284079C>T	uc001mxe.1	-	1		c.857G>A								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		CCTTATGTCTCCTACCCTCTG	0.498000														3			3		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208212226	208212226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:208212226G>A	uc001hgz.3	-	24	5362	c.4604C>T	c.(4603-4605)gCc>gTc	p.A1535V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1535					axon guidance	integral to membrane|intracellular|plasma membrane		p.A1535V(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTATACACGGCATCAAGAAT	0.527000														79			65		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152573941	152573941	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:152573941G>T	uc021vrb.1	-	7	840	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	NEB_uc002txu.3_Missense_Mutation_p.Q271K|NEB_uc021vrc.1_Missense_Mutation_p.Q271K|NEB_uc010fnx.3_Missense_Mutation_p.Q271K|NEB_uc021vrd.1_Missense_Mutation_p.Q271K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	271					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCTCACTTGATTGGTTACT	0.433000														31			7		0.000157383	0.000158192	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15640648	15640648	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15640648C>T	uc002nbh.4	+	3	518	c.351C>T	c.(349-351)ccC>ccT	p.P117P		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	117						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ACATCAAACCCCTTTTGGGAG	0.527000														67			16		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419876	19419876	+	RNA	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:19419876C>T	uc010tcj.1	-	0		c.26234G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTAAATTTTCATATACCTGT	0.333000														42			19		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088518	94088518	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:94088518G>A	uc001ybv.1	+	27	4557	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	UNC79_uc001ybs.1_Missense_Mutation_p.E1470K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1647						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGAGAGTGACGAAGAAGAGGA	0.552000														79			35		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306219	239306219	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:239306219C>T	uc002vye.3	+	15	1928	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	TRAF3IP1_uc002vyf.3_Silent_p.I537I	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	603	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TGGGGAAGATCATGGACTACA	0.577000														48			24		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555823	101555823	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:101555823G>A	uc001thz.4	-	12	1949	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	520					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						GTACAGATATGATAAAGAATA	0.358000														118			30		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348803	103348803	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:103348803G>A	uc001dum.3	-	63	5277	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	COL11A1_uc001duk.3_Silent_p.F837F|COL11A1_uc001dul.3_Silent_p.F1641F|COL11A1_uc001dun.3_Silent_p.F1602F|COL11A1_uc009weh.3_Silent_p.F1525F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1641	Fibrillar collagen NC1.				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)		CACCAGATGTGAAATTACAGT	0.368000														66			29		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521165	39521165	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:39521165C>T	uc002hwl.3	-	5	1008	c.963G>A	c.(961-963)gtG>gtA	p.V321V		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	321	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCTGGGACTCCACGTTGGTGA	0.617000														43			23		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24447179	24447179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:24447179C>T	uc003ned.1	-	17	1818	c.1707G>A	c.(1705-1707)tgG>tgA	p.W569*		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	569						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						CTCTCACCGTCCAGTTGGCTG	0.483000														74			21		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305307	54305307	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:54305307T>C	uc021smr.1	+	0	207	c.207T>C	c.(205-207)tgT>tgC	p.C69C	UNC13C_uc021sms.1_Silent_p.C69C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	69					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCAAAGTGTTCATCCACTC	0.443000														46			16		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679901	3679901	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3679901C>T	uc002wja.3	-	6	1734	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	SIGLEC1_uc002wiz.4_Silent_p.R578R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	578	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGTGGCCGTCCCGGGCCCGGC	0.687000														5			4		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9483374	9483374	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:9483374G>A	uc003brt.3	+	8	1343	c.908G>A	c.(907-909)gGg>gAg	p.G303E	SETD5_uc003brs.1_Missense_Mutation_p.G284E|SETD5_uc003bru.3_Missense_Mutation_p.G205E|SETD5_uc003brv.3_Missense_Mutation_p.G192E|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	303	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAGTATCGTGGGAAAGTCATG	0.453000														108			28		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394579	154394579	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:154394579C>T	uc010jih.1	+	0	1320	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	387					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)			AATCTACAATCCCTGATGGAG	0.468000														115			43		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41573349	41573349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41573349G>A	uc003xok.3	-	13	1507	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.H475Y|ANK1_uc003xoj.3_Missense_Mutation_p.H475Y|ANK1_uc003xol.3_Missense_Mutation_p.H475Y|ANK1_uc003xom.3_Missense_Mutation_p.H508Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	475	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTGCACAGTGAAGTGGGGTC	0.537000														53			14		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41753881	41753881	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:41753881T>C	uc003xom.3	-	0	400	c.118A>G	c.(118-120)Aag>Gag	p.K40E		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	465	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.T40T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTTCTTCTTTCGGTCACGG	0.652000														30			7		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:62839353A>G	uc002yii.3	+	6	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000														21			3		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829200	101829200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:101829200G>A	uc004azb.1	+	39	3894	c.3688G>A	c.(3688-3690)Gac>Aac	p.D1230N		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1230	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)				ATTTTCTGGGGACATTCGAGC	0.483000														77			27		0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784973	152784973	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:152784973C>T	uc001faq.3	+	0	527	c.51C>T	c.(49-51)atC>atT	p.I17I		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	17	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ccaagtgcatccccaagtgcc	0.602000														122			49		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834588	156834588	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:156834588G>C	uc001fqh.1	+	2	412	c.356G>C	c.(355-357)cGc>cCc	p.R119P	NTRK1_uc001fqf.1_Missense_Mutation_p.R89P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.R119P|NTRK1_uc009wsk.1_Missense_Mutation_p.R119P	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	119					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R119H(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGGCTCAGTCGCCTGTGAGTG	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				14			13		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96219594	96219594	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:96219594G>A	uc003kmq.3	+	2	1384	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.R225Q|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.R219Q|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	225					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)		ATCAAGATACGAAGAGAGAGC	0.418000														48			17		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186280283	186280283	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:186280283G>A	uc001gru.4	+	8	3668	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.G1165E|PRG4_uc009wyl.3_Missense_Mutation_p.G1113E|PRG4_uc009wym.3_Missense_Mutation_p.G1072E|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1206	Hemopexin-like 2.				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						AACTGTGAAGGAAAAACTTTC	0.343000														48			29		0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46872027	46872027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:46872027C>T	uc001cpu.2	+	6	1020	c.938C>T	c.(937-939)cCc>cTc	p.P313L	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	313					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCTCCCTTGCCCTTCAGAGAA	0.662000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			6		0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190619038	190619038	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:190619038C>A	uc002uqz.1	-	3	1177	c.643G>T	c.(643-645)Gag>Tag	p.E215*	OSGEPL1_uc002ura.1_Non-coding_Transcript	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	215					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTGGAGCACTCTGGATGTTTT	0.348000														12			10		0.00621372	0.00622965	1	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139297304	139297304	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:139297304A>G	uc004chi.3	-	9	1449	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SDCCAG3_uc004chj.3_Missense_Mutation_p.V392A|SDCCAG3_uc004chk.3_Missense_Mutation_p.V342A	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	415						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GATTTCGGCAACAAGATTCAG	0.488000														31			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463295	179463295	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179463295C>T	uc021vsy.1	-	240	49570	c.49345G>A	c.(49345-49347)Gga>Aga	p.G16449R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G10144R|TTN_uc021vta.1_Missense_Mutation_p.G10077R|TTN_uc021vtb.1_Missense_Mutation_p.G9952R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17376	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D16448N(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)			ACTTTGGATCCACCATCTTTT	0.433000														37			7		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178765	38178765	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:38178765C>T	uc002rqn.2	+	1	533	c.407C>T	c.(406-408)tCc>tTc	p.S136F	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AGTATAGTTTCCTATTACAAG	0.358000														71			25		0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	206972262	206972262	+	Missense_Mutation	SNP	C	T	T	rs143483780	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:206972262C>T	uc001heo.3	+	0	48	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_153758	NP_037503	Q9UHD0	IL19_HUMAN	Homo sapiens interleukin 19 (IL19), transcript variant 1, mRNA.	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAGCGTTTCCGCACAGATCT	0.483000														29			20		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764404	138764404	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:138764404A>T	uc003vun.3	-	3	1671	c.1283T>A	c.(1282-1284)tTt>tAt	p.F428Y	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.F428Y	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	428					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTATTATTAAAAAGAGGGCC	0.453000														92			40		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383349	61383349	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:61383349G>A	uc002ljk.4	+	5	606	c.435G>A	c.(433-435)agG>agA	p.R145R	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Silent_p.R32R|SERPINB11_uc002ljj.4_Silent_p.R32R|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	146					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGAAACGAGGAAAACGATTA	0.358000														15			3		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590727	83590727	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:83590727C>T	uc003uhz.3	-	16	2591	c.2276G>A	c.(2275-2277)aGg>aAg	p.R759K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	759	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTGGGTCCTCCTGTTTCTACC	0.453000														129			38		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173878855	173878855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:173878855C>T	uc001gjt.3	-	4	1107	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	330					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.E330E(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGGGTGAGTTCCTTCTCTACC	0.552000														127			16		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719308	50719308	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:50719308G>A	uc003bkv.4	-	23	3951	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	PLXNB2_uc003bkt.1_Silent_p.F78F|PLXNB2_uc003bku.1_Silent_p.F271F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1286					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)		TGGAGGGCAGGAAGAAGACGC	0.637000														26			10		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613372	39613372	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:39613372G>A	uc003xnj.3	-	15	1747	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	ADAM2_uc003xnk.3_Missense_Mutation_p.P539S|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	558	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P558S(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTGGCTCTTGGAATTTGTAAT	0.303000														51			20		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6749729	6749729	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:6749729A>C	uc003jdx.1	+	8	1025	c.896A>C	c.(895-897)aAa>aCa	p.K299T	PAPD7_uc011cmn.2_Missense_Mutation_p.K299T|PAPD7_uc010itl.1_Missense_Mutation_p.K119T	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	299					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTGGATCAAAGAGAAGTGG	0.478000														101			44		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477643	74477643	+	Splice_Site	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:74477643A>G	uc002sko.1	-	12	1481	c.1479_splice	c.e12-1	p.R493_splice	SLC4A5_uc002skl.3_Splice_Site|SLC4A5_uc002skn.3_Splice_Site_p.R493_splice|SLC4A5_uc010ffc.1_Splice_Site_p.R493_splice|SLC4A5_uc002skp.1_Splice_Site_p.R429_splice|SLC4A5_uc002sks.1_Splice_Site_p.R493_splice	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	493	Gly-rich.					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						CCACCGAAGAACCTGCTCAAG	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			45		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23085073	23085073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:23085073G>A	uc002dll.3	-	13	2305	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	USP31_uc002dlk.3_5'Flank|USP31_uc010vca.2_Missense_Mutation_p.P72S|USP31_uc010bxm.3_Missense_Mutation_p.P57S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	769					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P769L(1)		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)		GACCATGACGGGATGGCTGTC	0.527000														27			13		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593933	16593933	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:16593933G>A	uc002gqk.1	+	0	295	c.219G>A	c.(217-219)caG>caA	p.Q73Q		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	73																	ACCAGCCCCAGCACGACGTCC	0.662000														122			35		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30975506	30975506	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:30975506C>T	uc002ead.1	+	5	1417	c.731C>T	c.(730-732)tCc>tTc	p.S244F	SETD1A_uc002eae.1_Missense_Mutation_p.S244F	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	244	Ser-rich.			PCSQDTS -> ACPVTHV (in Ref. 3; AAH35795).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACCCCCTGCTCCCAGGACACA	0.637000														62			31		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4741624	4741624	+	Splice_Site	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:4741624A>C	uc003bqc.3	+	34	4841	c.4491_splice	c.e34+1	p.Q1497_splice	ITPR1_uc021wsi.1_Splice_Site_p.Q1503_splice|ITPR1_uc021wsj.1_Splice_Site_p.Q1488_splice|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1512					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)		ACGACTTTGCAGGTAAGAAAT	0.423000														52			16		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865330	57865330	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:57865330T>C	uc001snx.3	+	11	2901	c.2807T>C	c.(2806-2808)gTt>gCt	p.V936A	GLI1_uc021qzi.1_Missense_Mutation_p.V895A|GLI1_uc009zpq.3_Missense_Mutation_p.V808A	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	936					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGTTCCCAGGTTAGCCCAAGC	0.572000														61			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21139052	21139052	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:21139052C>T	uc010vbe.2	-	7	1164	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH3_uc002die.2_Silent_p.V359V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	388	Stem (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)		GTTTCTGGATCACATCCCAAA	0.488000														114			38		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55812995	55812995	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55812995T>A	uc002qkf.3	+	9	969	c.842T>A	c.(841-843)aTg>aAg	p.M281K	BRSK1_uc021vbs.1_Missense_Mutation_p.M265K|BRSK1_uc002qkg.3_Missense_Mutation_p.M265K|BRSK1_uc002qkh.3_5'Flank|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	265	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTGAGGGGAATGATCGAAGTG	0.587000														18			5		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3297027	3297027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:3297027C>T	uc002cun.1	-	4	1616	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MEFV_uc021tbw.1_Missense_Mutation_p.E315K|MEFV_uc021tbx.1_Missense_Mutation_p.E106K|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Missense_Mutation_p.E106K	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	526					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.W525*(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCAGAAGTTCCCATTCTGAC	0.612000														52			19		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976635	24976635	+	Missense_Mutation	SNP	C	T	T	rs5246	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24976635C>T	uc001wpp.1	-	1	166	c.136G>A	c.(136-138)Ggt>Agt	p.G46S	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	46	Peptidase S1.		G -> R (in dbSNP:rs5246).		interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTGAGGGACCGTTGGAAGTT	0.512000														129			50		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310103	124310103	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:124310103C>T	uc010sal.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		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)		CGTCCTTATTCCTCAGGCTAT	0.408000														29			28		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114674	113114674	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:113114674C>T	uc003ead.2	-	14	1880	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	WDR52_uc003eae.2_Missense_Mutation_p.E605K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	605										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TAATCCCTTTCCACTTCAAAG	0.343000														50			16		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981156	75981157	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:75981156_75981157GT>AA	uc002baw.3	-	2	2342_2343	c.2249_2250AC>TT	c.(2248-2250)cac>cTT	p.H750L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	750	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGTAAGCGTGGTGCTGTGGGTC	0.644000														27			11		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173409	48173409	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:48173409G>A	uc003gxz.3	-	3	392	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	101	PH.				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						TTCACCCACAGGTCCCTGCTT	0.328000														45			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928373	137928373	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:137928373C>T	uc002tva.1	+	5	1495	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.H389Y	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											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)		GCATTGCCCTCATTTGGTGGA	0.488000														37			10		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102129	66102129	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:66102129G>A	uc001dci.3	+	19	3318	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	977					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATGAGGACGAAAGCCAGAG	0.423000														74			21		0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042400	100042400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:100042400C>T	uc001tgn.3	+	0	873	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	150										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTTTTTATCTTCAGCTGTG	0.468000														54			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073396	9073396	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9073396C>T	uc002mkp.3	-	2	14254	c.14050G>A	c.(14050-14052)Ggg>Agg	p.G4684R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4686	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						CCAGAAGACCCTGTCTGGGTG	0.483000														112			38		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741424	196741424	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:196741424C>T	uc002utj.4	-	37	6063	c.5962_splice	c.e37-1	p.N1988_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1988	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAAAATTCTATATAACAA	0.289000														15			7		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438146	124438146	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:124438146C>T	uc003ehg.3	+	59	8917	c.8790C>T	c.(8788-8790)gcC>gcT	p.A2930A	KALRN_uc003ehk.3_Silent_p.A1233A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2929	Protein kinase.				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|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase 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						CCACAGCAGCCACATGCTTGC	0.532000														51			12		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:1041878C>T	uc001ift.3	+	2	300	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.P30S	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	77					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.P77L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000														20			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263889	140263889	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140263889C>T	uc003lif.2	+	0	2036	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S679L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S679L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	692	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAGGCTTCGTCGAGGGCG	0.647000														63			19		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206580	21206580	+	Silent	SNP	T	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:21206580T>G	uc003zoq.1	-	0	563	c.517A>C	c.(517-519)Aga>Cga	p.R173R	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	173					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GAGAGGGATCTCATGATTTCT	0.398000														358			130		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147193	26147193	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:26147193G>A	uc002dof.3	+	1	1387	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	332					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGCCATTCGAATAGGGATC	0.552000														162			62		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70195462	70195462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70195462G>A	uc001svp.3	+	7	1586	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	RAB3IP_uc001svm.3_Missense_Mutation_p.R364Q|RAB3IP_uc001svn.3_Missense_Mutation_p.R364Q|RAB3IP_uc001svo.3_Intron|RAB3IP_uc001svq.3_Missense_Mutation_p.R380Q|RAB3IP_uc001svs.3_Intron|RAB3IP_uc001svt.3_Missense_Mutation_p.R158Q|Mir_548_uc021rap.1_5'Flank	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	380					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.R380W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAACCTATCCGGTTTGTGAAA	0.398000														33			14		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51398015	51398015	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:51398015C>T	uc011bds.2	+	46	4981	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1653						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCTGGCATCCCATAGCCCC	0.537000														14			8		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697833	55697833	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:55697833G>A	uc002qjq.3	-	15	2716	c.2643_splice	c.e15+1	p.P881_splice	PTPRH_uc010esv.3_Splice_Site_p.P703_splice	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	881	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CGACCTTACGGGCATGAAGCT	0.592000														70			21		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5691060	5691060	+	Missense_Mutation	SNP	G	A	A	rs145758016	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:5691060G>A	uc003gij.3	-	4	584	c.530C>T	c.(529-531)tCg>tTg	p.S177L	EVC2_uc003gik.3_Missense_Mutation_p.S97L|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	177						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCTTCACTCGACCCAGACAC	0.547000														31			14		0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131271342	131271342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:131271342C>T	uc004bvj.3	+	1	401	c.287C>T	c.(286-288)tCc>tTc	p.S96F	GLE1_uc004bvi.3_Missense_Mutation_p.S96F|GLE1_uc010myd.3_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	96					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGCCTTTTCCCCAGCCTCC	0.473000														29			65		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115727	170115727	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:170115727C>T	uc002ues.3	-	17	2534	c.2321_splice	c.e17-1	p.G774_splice	LRP2_uc010zdf.1_Splice_Site_p.G637_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	774					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTTCTCTTCCTATAAGTTA	0.333000														47			19		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47663740	47663740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:47663740C>T	uc003gxm.3	-	11	1816	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	CORIN_uc011bzf.2_Missense_Mutation_p.E436K|CORIN_uc011bzg.2_Missense_Mutation_p.E508K|CORIN_uc011bzh.1_Missense_Mutation_p.E538K|CORIN_uc011bzi.1_Missense_Mutation_p.E538K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	575					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCACATATTCATCAGGCATC	0.388000														52			9		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21760446	21760446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:21760446C>T	uc003svc.3	+	44	7290	c.7259C>T	c.(7258-7260)gCt>gTt	p.A2420V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2420					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTATCTGGGCTTTTGGAGGC	0.418000									Kartagener syndrome					16			5		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217541	51217541	+	Silent	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:51217541A>G	uc002psx.1	-	3	557	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	180					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AACTTCTTCAACCCCGTCTGA	0.562000														14			4		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192387	52192387	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:52192387G>A	uc002xwq.4	-	2	3258	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	ZNF217_uc010gij.1_Silent_p.F964F	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	972					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGAGCTCAGGAACCTTGGTT	0.552000														65			20		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954316	75954316	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:75954316C>T	uc003kek.3	+	20	2575	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C	IQGAP2_uc010izv.2_Missense_Mutation_p.R338C|IQGAP2_uc011csv.2_Missense_Mutation_p.R281C|IQGAP2_uc003kel.3_Missense_Mutation_p.R281C	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	785					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACAGTAATTCGCAAATTTGT	0.413000														61			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176899	140176899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140176899G>A	uc003lhd.2	+	0	2456	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E784K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E784K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	822					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCCGCAGAAGAGAAACA	0.468000														53			24		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47329397	47329397	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:47329397G>A	uc010gqb.3	+	7	731	c.468G>A	c.(466-468)agG>agA	p.R156R	PCBP3_uc002zhp.2_Silent_p.R156R|PCBP3_uc010gqc.2_Silent_p.R156R|PCBP3_uc002zhq.2_Silent_p.R156R|PCBP3_uc002zhs.2_Silent_p.R156R|PCBP3_uc002zht.2_Silent_p.R124R	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	156	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGGAGATCAGGGAGGTAACAG	0.667000														25			11		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387043	10387043	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:10387043G>A	uc003wta.3	+	1	221	c.181G>A	c.(181-183)Gga>Aga	p.G61R	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.G61R|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	61					proteolysis	integral to membrane	serine-type endopeptidase activity	p.E60E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TATTTTCGAGGGAAGAACTCG	0.517000														137			60		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918356	15918356	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:15918356G>A	uc002nbq.2	-	0	581	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGCGAGGTGGAAAATGGCCG	0.612000														66			21		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028973	150028973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:150028973C>T	uc003lsn.3	+	2	2242	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	SYNPO_uc021yfu.1_Missense_Mutation_p.S623F|SYNPO_uc003lso.4_Missense_Mutation_p.S379F|SYNPO_uc003lsp.3_Missense_Mutation_p.S379F|SYNPO_uc021yfv.1_Missense_Mutation_p.S379F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	623					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGCAAATCCATGTTTACT	0.612000														46			14		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799290	209799290	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:209799290G>A	uc001hhg.3	-	12	2069	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	LAMB3_uc009xco.3_Missense_Mutation_p.T560I|LAMB3_uc001hhh.3_Missense_Mutation_p.T560I|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	560	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCGGGGCCCGGTCAAGCCAGG	0.642000														16			21		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2598524	2598524	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:2598524C>T	uc002fuy.1	-	14	2564	c.2478G>A	c.(2476-2478)aaG>aaA	p.K826K	KIAA0664_uc002fux.1_Silent_p.K759K|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	826							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GTAAGTACGTCTTGAAGATGT	0.632000														62			23		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884746	110884746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:110884746C>T	uc001dzl.1	+	0	2802	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	RBM15_uc001dzm.1_Missense_Mutation_p.P907S|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.P907S	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	907	SPOC.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATCAGCCTCCCTGTGGGGGG	0.547000			T	MKL1	acute megakaryocytic leukemia									72			26		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57481055	57481055	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:57481055G>A	uc009vzx.1	-	11	1265	c.945C>T	c.(943-945)ccC>ccT	p.P315P	DAB1_uc001cyt.1_Silent_p.P313P|DAB1_uc001cyq.1_Silent_p.P313P|DAB1_uc001cyr.1_Silent_p.P229P|DAB1_uc009vzw.1_Silent_p.P297P|DAB1_uc001cys.1_Silent_p.P315P	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	348					cell differentiation|nervous system development			p.P315H(1)		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						GTTGGACGAGGGGCTGCTGAC	0.617000														40			15		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370397	86370397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:86370397C>T	uc001vll.1	-	1	706	c.247G>A	c.(247-249)Gac>Aac	p.D83N	SLITRK6_uc021rla.1_Missense_Mutation_p.D83N	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	83						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)		CCAGAAAAGTCATTTGTGTGA	0.388000														90			64		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927206	130927206	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:130927206C>T	uc001uil.2	-	8	857	c.641_splice	c.e8-1	p.G214_splice	RIMBP2_uc001uim.3_Splice_Site_p.G122_splice	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	214	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGAGCTCTCCTGTTGGGTAC	0.617000														29			8		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118089	120118089	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:120118089G>A	uc003yoo.3	+	5	590	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	165	C-type lectin.					collagen|cytoplasm	mannose binding			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)			CATCGTGCAGGAAGAGAAGAA	0.458000														31			11		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102639	50102639	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:50102639C>T	uc002poo.4	+	4	3789	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	442							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGAGAAGATCGAGGCCAAGA	0.587000														9			7		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56421954	56421954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:56421954G>A	uc010ygg.2	-	5	2282	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	753							ATP binding	p.N752K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTGCATCTTGGATTTTTCAGT	0.458000														76			30		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37262196	37262196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:37262196G>A	uc002hrg.2	-	6	934	c.722C>T	c.(721-723)tCt>tTt	p.S241F	LOC100131347_uc002hrf.1_Intron|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	241					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCGGGACAGACATAGGGAT	0.587000														53			19		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169505758	169505758	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:169505758C>T	uc001ggg.1	-	13	5102	c.4957G>A	c.(4957-4959)Gat>Aat	p.D1653N		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1653	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAACATCATCCACTTCAGCT	0.453000														43			13		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732129	157732129	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:157732129T>C	uc003iph.2	-	2	846	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	119	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGCCCTAATATAGTTCCATCA	0.358000														41			14		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112647993	112647993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:112647993G>A	uc021reb.1	-	49	7687	c.7291C>T	c.(7291-7293)Cgc>Tgc	p.R2431C	C12orf51_uc001ttr.1_Missense_Mutation_p.R318C	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GCAGCATTGCGGTGGGCCTGC	0.542000														99			38		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722194	8722194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:8722194G>A	uc002wnb.3	+	22	2500	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	PLCB1_uc010zrb.1_Missense_Mutation_p.E732K|PLCB1_uc002wna.3_Missense_Mutation_p.E833K|PLCB1_uc002wnc.1_Missense_Mutation_p.E732K|PLCB1_uc002wnd.1_Missense_Mutation_p.E410K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	833					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E833K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGACACTGGAAGATGAAGA	0.393000														29			11		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911970	46911970	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:46911970G>A	uc001ndn.4	-	13	2016	c.1773C>T	c.(1771-1773)atC>atT	p.I591I		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	591					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TATCGGCAATGATGCGGCGTC	0.552000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			8		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806678	143806678	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:143806678G>A	uc011ktz.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	1					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)					ACAAGAGCATGGAAGGCAACC	0.502000														65			26		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43584942	43584942	+	Missense_Mutation	SNP	C	T	T	rs139097536		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:43584942C>T	uc001zrf.1	-	2	409	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	135					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GATGAAAGTTCCCAGCGGGTA	0.478000														107			48		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3785067	3785067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:3785067G>A	uc002lyt.3	-	1	467	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	MATK_uc002lyv.3_Intron|MATK_uc002lyu.3_Intron|MATK_uc010dtq.3_Missense_Mutation_p.P23S	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	23					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTACCCGGGGAAGTTCCTCA	0.637000														33			16		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122337852	122337852	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:122337852G>A	uc003vkj.1	-	0	1357	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	374						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCAAGGTGAAGGATGAACATC	0.413000														109			42		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934761	30934761	+	Missense_Mutation	SNP	G	A	A	rs139989586		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:30934761G>A	uc002nsu.1	+	1	430	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	ZNF536_uc010edd.1_Missense_Mutation_p.G98R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G98W(2)|p.G98V(1)		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)					CAGCCTCAACGGGAGGGTGGA	0.652000														20			10		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897050	175897050	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:175897050G>A	uc003iuc.3	+	4	1044	c.374G>A	c.(373-375)gGa>gAa	p.G125E	ADAM29_uc003iud.3_Missense_Mutation_p.G125E|ADAM29_uc010irr.3_Missense_Mutation_p.G125E|ADAM29_uc011cki.2_Missense_Mutation_p.G125E|ADAM29_uc021xuo.1_Missense_Mutation_p.G125E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	125					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGTTTTCAAGGAATATTACAG	0.423000														27			26		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114773045	114773045	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:114773045G>T	uc001vui.3	-	17	1837	c.1706C>A	c.(1705-1707)cCc>cAc	p.P569H	RASA3_uc010tkk.2_Missense_Mutation_p.P537H|RASA3_uc001vuj.3_Missense_Mutation_p.P186H	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	569					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AACACTCTTGGGGTCTCTTCT	0.557000														21			4		1	1	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101575033	101575033	+	Missense_Mutation	SNP	C	T	T	rs145667218		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:101575033C>T	uc003knm.3	-	11	2223	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	646					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCATTTATATCCCAAAGAATA	0.343000														37			9		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550790	167550790	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:167550790C>T	uc003qvl.3	+	12	3548	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	CCR6_uc010kkm.3_Missense_Mutation_p.R358W|CCR6_uc003qvn.4_Missense_Mutation_p.R358W|CCR6_uc003qvm.4_Missense_Mutation_p.R358W	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	358					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AAACATTTCTCGGCAGACCAG	0.468000														51			4		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067400	190067400	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:190067400C>T	uc001gse.1	-	7	2281	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	FAM5C_uc010pot.1_Silent_p.L581L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	683						extracellular region		p.D682H(1)|p.L683M(1)		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)					GCTGCAAAATCAGGTCCCGAA	0.458000														110			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633464	179633464	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179633464C>T	uc021vsy.1	-	37	9324	c.9099G>A	c.(9097-9099)ggG>ggA	p.G3033G	TTN_uc021vsz.1_Silent_p.G2987G|TTN_uc021vta.1_Silent_p.G2987G|TTN_uc021vtb.1_Silent_p.G2987G|TTN_uc002unb.2_Silent_p.G3033G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3033	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3033F(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)			CAGCAGCATCCCCAAAGTGAA	0.398000														54			13		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66863104	66863104	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:66863104G>A	uc004dwu.2	+	1	2738	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	AR_uc011mpd.2_Silent_p.E541E|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.E541E|AR_uc022byj.1_Intron|AR_uc022byk.1_Silent_p.E541E|AR_uc004dwv.2_Silent_p.E9E	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	540	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCAGTTTGGAGACTGCCAGGG	0.473000									Androgen Insensitivity Syndrome					49			33		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57134298	57134298	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:57134298G>A	uc002iwy.4	-	12	1581	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TRIM37_uc002iwz.4_Silent_p.F379F|TRIM37_uc002ixa.4_Silent_p.F257F|TRIM37_uc010woc.2_Silent_p.F345F	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	379	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTCCAAACGGAAAAATCTAT	0.353000									Mulibrey Nanism					54			10		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70928703	70928703	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:70928703C>T	uc001swb.4	-	27	5490	c.5460G>A	c.(5458-5460)caG>caA	p.Q1820Q	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.Q1730Q|PTPRB_uc010stp.2_Silent_p.Q1730Q|PTPRB_uc001swc.4_Silent_p.Q2038Q|PTPRB_uc001swa.4_Silent_p.Q1950Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1820	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGGGAATCCTGGTCCGCTG	0.512000														22			16		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960409	150960409	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:150960409G>A	uc001ewa.2	+	9	1144	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	225			R -> Q (in dbSNP:rs7542365).		cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCACCCAGCGAAATCCTGAA	0.562000														74			21		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067953	5067953	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:5067953C>T	uc010qyv.2	+	0	198	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCCTGGCCATTCTTTCCA	0.488000														28			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062579	9062579	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:9062579G>A	uc002mkp.3	-	2	25071	c.24867C>T	c.(24865-24867)ttC>ttT	p.F8289F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8291	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						AAGCGGAAGGGAAATCCTCTA	0.517000														53			24		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089854	12089854	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:12089854T>C	uc001ato.2	+	6	1141	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	250	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGGCGCCTGTTCCCGGTGCC	0.692000														9			3		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872839	130872839	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:130872839C>G	uc010fmh.2	-	3	984	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	195						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTGACATCGTCTGTCCAGCAG	0.418000														121			7		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156773469	156773469	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:156773469C>T	uc003ipe.1	-	4	633	c.586_splice	c.e4-1	p.D196_splice		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	196						integral to membrane|plasma membrane											GTGCAAAATCCTCCAATATGT	0.318000														34			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175156	140175156	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140175156G>A	uc003lhd.2	+	0	713	c.607G>A	c.(607-609)Gag>Aag	p.E203K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E203K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E203K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	218	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E202*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGAGGAAACTGC	0.443000														82			34		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415652	65415652	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:65415652C>T	uc003dmn.3	-	11	2236	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V	MAGI1_uc003dmm.3_Silent_p.V570V|MAGI1_uc003dmo.3_Silent_p.V570V|MAGI1_uc003dmp.3_Silent_p.V570V|MAGI1_uc010hny.2_Silent_p.V455V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	570					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)		CTACCGAGGTCACTAAACTTG	0.458000														57			21		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40121767	40121767	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:40121767A>G	uc003guy.4	+	8	2374	c.2036A>G	c.(2035-2037)gAa>gGa	p.E679G	N4BP2_uc010ifq.3_Missense_Mutation_p.E599G|N4BP2_uc010ifr.3_Missense_Mutation_p.E599G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	679						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAATTCTGGAAACTCCACAC	0.343000														44			21		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921392	247921392	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247921392G>A	uc010pza.2	-	0	317	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATTCACAAAAGAAACGAAGAA	0.473000														32			39		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839744	19839744	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:19839744G>A	uc002zqg.3	-	1	640	c.41C>T	c.(40-42)cCc>cTc	p.P14L	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P14L|C22orf29_uc002zqi.3_Missense_Mutation_p.P14L|C22orf29_uc021wli.1_Missense_Mutation_p.P14L	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	14										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGCCCAGATGGGAATGCGAGG	0.637000														78			31		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10395837C>T	uc002gmo.3	-	39	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1906						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000														122			66		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221676	17221676	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:17221676G>A	uc002dfa.3	-	9	2155	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	690					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCAGCAAGGAAGTAGAGGT	0.522000														114			33		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921197	247921197	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247921197G>A	uc010pza.2	-	0	512	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGATATTGGAGGCACAGAA	0.483000														19			22		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919441	26919441	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:26919441G>A	uc002hbq.3	-	2	913	c.821C>T	c.(820-822)gCt>gTt	p.A274V	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	274					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCCTCCATAGCTCCATGCTC	0.473000														68			26		0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17133945	17133945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:17133945C>T	uc003wxj.3	+	5	1035	c.682C>T	c.(682-684)Cct>Tct	p.P228S	VPS37A_uc003wxk.3_Missense_Mutation_p.P203S|VPS37A_uc003wxl.3_Missense_Mutation_p.P5S	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	228					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GCCAGATGTCCCTGATGCATT	0.328000														36			12		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840684	142840684	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:142840684C>T	uc003evm.3	+	1	1965	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	CHST2_uc021xex.1_Silent_p.I342I	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	342					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTCACGGATCCGCTCGCGCC	0.692000														4			6		0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079088	74079088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:74079088G>A	uc003pgu.4	-	1	211	c.211C>T	c.(211-213)Cca>Tca	p.P71S	OOEP_uc003pgv.4_Missense_Mutation_p.P16S	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	71	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCCATTTCTGGAATTATGGCT	0.537000														9			9		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6837298	6837298	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:6837298G>A	uc002knc.3	+	2	3483	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ARHGAP28_uc002kne.3_5'UTR|ARHGAP28_uc010wzi.2_5'UTR	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACATTGACTCGAACCCAAGCA	0.453000														23			10		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588527	247588527	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:247588527G>A	uc001icr.3	+	4	1920	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	NLRP3_uc001ics.3_Silent_p.K594K|NLRP3_uc001icu.3_Silent_p.K594K|NLRP3_uc001icw.3_Silent_p.K594K|NLRP3_uc001icv.3_Silent_p.K594K|NLRP3_uc010pyw.2_Silent_p.K592K|NLRP3_uc001ict.1_Silent_p.K592K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	594					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.K594N(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTTGGAGAAGAAATTAAGTT	0.443000														59			34		0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23738120	23738120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr18:23738120G>A	uc002kvq.3	+	3	521	c.407G>A	c.(406-408)gGt>gAt	p.G136D	PSMA8_uc002kvo.3_Missense_Mutation_p.G92D|PSMA8_uc002kvp.3_Missense_Mutation_p.G130D|PSMA8_uc002kvr.3_Missense_Mutation_p.G104D	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	136					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGACCTTTTGGTATTTCTGCC	0.299000														78			43		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:40359793C>T	uc003oph.1	-	2	2724	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000														34			13		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179874	166179874	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:166179874A>C	uc002udc.3	+	11	2170	c.1880A>C	c.(1879-1881)cAg>cCg	p.Q627P	SCN2A_uc002udd.3_Missense_Mutation_p.Q627P|SCN2A_uc002ude.3_Missense_Mutation_p.Q627P	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	627					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)	AATGTCAGCCAGGCCAGCCGT	0.602000														29			11		0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:3202495C>T	uc002wid.3	+	6	562	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_uc002wie.3_Silent_p.I123I|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000														30			10		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100503174	100503174	+	Silent	SNP	C	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:100503174C>G	uc011cej.2	+	1	268	c.255C>G	c.(253-255)cgC>cgG	p.R85R	MTTP_uc003hvc.4_Silent_p.R58R|MTTP_uc003hvb.3_Silent_p.R58R	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	58	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGGGCTACCGCATTTCCTCCA	0.468000														87			40		0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63982018	63982018	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:63982018G>A	uc003tta.2	-	3	1287	c.1114C>T	c.(1114-1116)Cat>Tat	p.H372Y		NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTCCAGTATGAATTTTCTTA	0.353000														31			11		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232227	110232227	+	Silent	SNP	G	A	A	rs146929022		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:110232227G>A	uc001tpj.2	-	6	1493	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	TRPV4_uc001tpg.2_Silent_p.F432F|TRPV4_uc021rdp.1_Silent_p.F406F|TRPV4_uc001tph.2_Silent_p.F419F|TRPV4_uc001tpi.2_Silent_p.F359F|TRPV4_uc001tpk.2_Silent_p.F466F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	466					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACGGCCCCGAACTTGCGCC	0.602000														69			31		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660867	90660867	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:90660867G>A	uc011eab.2	-	6	1832	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	BACH2_uc003pnw.3_Missense_Mutation_p.P320S|BACH2_uc010kch.3_Missense_Mutation_p.P320S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	320						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P320S(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGCCGTGGGGGTAGGGGCA	0.632000														24			10		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632084	156632084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:156632084C>T	uc003iov.3	+	6	1303	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GUCY1A3_uc003iou.2_Missense_Mutation_p.S256F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S256F|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S255F|GUCY1A3_uc003iow.3_Missense_Mutation_p.S256F|GUCY1A3_uc003iox.3_Missense_Mutation_p.S256F|GUCY1A3_uc010iqe.3_Missense_Mutation_p.S21F|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S256F|GUCY1A3_uc003ioz.3_Missense_Mutation_p.S21F|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S256F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTGTTGTACTCCGTTCACATG	0.483000														81			38		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695336	30695336	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr8:30695336T>A	uc003xil.3	-	2	7315	c.7315A>T	c.(7315-7317)Aat>Tat	p.N2439Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2439										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGTTCACATTTCTTTTCTTC	0.363000														191			57		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087261	39087261	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:39087261G>A	uc011aej.1	-	2	252	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	KCNJ6_uc002ywo.2_Missense_Mutation_p.H67Y	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	67					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACGTTGCCGTGATGAACATTG	0.478000														98			46		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412091	65412091	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:65412091C>T	uc011moz.2	+	6	1482	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	HEPH_uc004dwn.3_Missense_Mutation_p.P398S|HEPH_uc004dwo.3_Missense_Mutation_p.P128S|HEPH_uc010nkr.3_Missense_Mutation_p.P398S|HEPH_uc011mpa.2_Missense_Mutation_p.P398S	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	395	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACTATGGCCCGATGGGGCA	0.517000														23			16		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699758	17699758	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:17699758G>A	uc002grm.3	+	2	3965	c.3496G>A	c.(3496-3498)Ggc>Agc	p.G1166S	RAI1_uc002grn.1_Missense_Mutation_p.G1166S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1166						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCCTCTGAGGGCCGGCTCCC	0.642000														42			19		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12229589	12229589	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:12229589C>T	uc001mjz.3	+	4	780	c.492C>T	c.(490-492)ctC>ctT	p.L164L	MICAL2_uc010rch.1_Silent_p.L164L|MICAL2_uc001mjy.3_Silent_p.L164L|MICAL2_uc001mka.3_Silent_p.L164L|MICAL2_uc010rci.2_Silent_p.L164L|MICAL2_uc001mkb.3_Silent_p.L164L|MICAL2_uc001mkc.3_Silent_p.L164L|MICAL2_uc001mkd.3_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	164						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AACTACAGCTCATCCTATTCA	0.463000														72			42		0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168259	139168259	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:139168259G>A	uc003vvb.3	-	0	199	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	KLRG2_uc010lnc.3_Missense_Mutation_p.P44S	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	44	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTGCTTTCGGGACCTTCAGGT	0.711000														21			8		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281780	125281780	+	Missense_Mutation	SNP	G	A	A	rs116874912	byFrequency	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:125281780G>A	uc011lyw.2	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AATGGCATACGATCGGTATGT	0.433000														59			71		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20638545	20638545	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:20638545G>A	uc002dhm.1	-	9	1461	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.L465L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	465					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.L465L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTCCTCCCCAGGAAACAAATG	0.507000														269			125		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:43411107C>T	uc002ovj.1	-	4	1306	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E243K|PSG4_uc002ovg.1_Missense_Mutation_p.E403K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	404	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000														260			117		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585223	179585223	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179585223C>T	uc021vsy.1	-	76	19759	c.19534G>A	c.(19534-19536)Gat>Aat	p.D6512N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3173N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7439	Ig-like 46.						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)			AGACTTGTATCAAAATGTTTT	0.393000														41			21		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843261	7843261	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:7843261G>A	uc001qte.3	-	1	344	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	103					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGCAGGCAGGAGGAAGCTTG	0.443000														71			21		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404443	10404443	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:10404443G>A	uc002gmo.3	-	26	3816	c.3722C>T	c.(3721-3723)aCt>aTt	p.T1241I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1241						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGGAGACAGTCTCCATGTT	0.418000														92			35		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8414189	8414189	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:8414189G>A	uc001mgi.1	-	11	2332	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	STK33_uc001mgj.1_Silent_p.F471F|STK33_uc001mgk.1_Silent_p.F471F|STK33_uc010rbn.1_Silent_p.F430F|STK33_uc001mgl.3_Silent_p.F284F	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	471						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTAGATGTGAAACTTGAAC	0.413000														71			36		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64467425	64467425	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:64467425C>T	uc001xgl.3	+	27	3856	c.3626C>T	c.(3625-3627)aCt>aTt	p.T1209I	SYNE2_uc001xgm.3_Missense_Mutation_p.T1209I|SYNE2_uc021ruh.1_Missense_Mutation_p.T1209I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1209					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTCAGATGACTCTTAATACC	0.303000														54			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169469	113169469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:113169469C>T	uc010mtz.3	-	37	8748	c.8411G>A	c.(8410-8412)gGa>gAa	p.G2804E	SVEP1_uc010mty.3_Missense_Mutation_p.G730E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2804	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGCACATATCCGGGGTCACA	0.478000														61			74		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880488	48880488	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:48880488C>T	uc001rrr.3	+	3	245	c.114C>T	c.(112-114)atC>atT	p.I38I	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	38										endometrium(1)|large_intestine(4)	5						AGGTAACCATCACTGAAACCC	0.448000														36			12		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:55594880C>T	uc001nhy.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	62					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)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)				127			85		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172417629	172417629	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:172417629G>A	uc001gik.3	+	2	354	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	52										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGAAGAATATGAATTTGCCAA	0.333000														57			47		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829157	96829157	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:96829157C>T	uc001kkb.3	-	0	98	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	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														61			18		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436535	16436535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:16436535G>A	uc003zml.3	-	5	1797	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	BNC2_uc011lmw.2_Missense_Mutation_p.P458S|BNC2_uc003zmm.3_Missense_Mutation_p.P511S|BNC2_uc003zmq.1_Missense_Mutation_p.P567S|BNC2_uc003zmr.1_Missense_Mutation_p.P590S|BNC2_uc003zmp.1_Missense_Mutation_p.P581S|BNC2_uc010mij.1_Missense_Mutation_p.P475S|BNC2_uc011lmv.2_Missense_Mutation_p.P379S|BNC2_uc003zmo.1_Missense_Mutation_p.P475S|BNC2_uc003zmj.3_Missense_Mutation_p.P318S|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.P318S|BNC2_uc003zmn.1_Missense_Mutation_p.P318S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	553	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTAGGGAGAGGATTTTGCAAG	0.488000														78			28		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712369	121712369	+	Silent	SNP	A	G	G	rs148486121		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:121712369A>G	uc003ees.3	-	6	1430	c.1227T>C	c.(1225-1227)aaT>aaC	p.N409N	ILDR1_uc003eeq.3_Silent_p.N377N|ILDR1_uc003eer.3_Silent_p.N365N|ILDR1_uc010hrg.3_Silent_p.N320N	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	409						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)		TGGGTGACCCATTCAGCCTAG	0.612000														30			10		0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970966	63970967	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:63970966_63970967CC>TT	uc001nyk.1	+	12	1578_1579	c.1431_1432CC>TT	c.(1429-1434)aaccgg>aaTTgg	p.R478W	STIP1_uc010rnb.1_Missense_Mutation_p.R454W	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	478					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CGCAGTACAACCGGCACGACAG	0.589000														20			6		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:123333892G>A	uc003ieo.3	+	9	1409	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_uc003iep.3_Missense_Mutation_p.E382K|ADAD1_uc003ieq.3_Missense_Mutation_p.E375K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	393	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCAGATGGGAAGTGCTTGG	0.423000														203			59		0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59813483	59813483	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:59813483C>T	uc002agc.2	+	8	1200	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	338										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AGCATAGGATCCCTCAGGCAA	0.443000														28			11		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251152	160251152	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:160251152T>C	uc003iqg.4	+	5	1119	c.809T>C	c.(808-810)aTt>aCt	p.I270T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	270	N-terminal Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGGGACACATTGTCATCAAG	0.393000														61			24		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97202810	97202810	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:97202810C>T	uc010how.1	+	9	2150	c.2107C>T	c.(2107-2109)Cca>Tca	p.P703S	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.P69S|EPHA6_uc003drs.4_Missense_Mutation_p.P95S|EPHA6_uc003drr.4_Missense_Mutation_p.P95S|EPHA6_uc003drt.3_Missense_Mutation_p.P95S|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	608	Protein kinase.		F -> S.			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						TTACATTGATCCAGATACATA	0.393000														25			13		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156675946	156675946	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:156675946G>A	uc003lwo.1	+	15	1802	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	574	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCAGTACCGGATTTCGGTT	0.498000			T	SYK	peripheral T-cell lymphoma									59			23		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293339	118293339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:118293339C>T	uc001two.2	-	2	334	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	122					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)					GTTCATCCGTCATCTCCAAGA	0.602000														53			22		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159603	52159603	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:52159603G>A	uc001ryw.3	+	15	2871	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E	SCN8A_uc010snl.2_Missense_Mutation_p.G898E|SCN8A_uc001ryy.2_Missense_Mutation_p.G763E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	898					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAACTCTTTGGAAAAAGCTAC	0.468000														77			34		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr13:84454471C>T	uc001vlk.3	-	0	2058	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000														115			72		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46257428	46257428	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:46257428C>T	uc002ini.1	-	8	926	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	SKAP1_uc002inj.1_Missense_Mutation_p.E272K|SKAP1_uc010dbd.1_Missense_Mutation_p.E178K|SKAP1_uc010dbe.1_Missense_Mutation_p.E272K	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	272					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGCAAGACTTCATAAATATCT	0.413000														101			29		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098612	38098612	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr21:38098612G>A	uc002yvr.2	+	5	792	c.736G>A	c.(736-738)Gat>Aat	p.D246N	SIM2_uc002yvq.3_Missense_Mutation_p.D246N	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	246	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GATATTCCTGGATTCCAGGTG	0.557000														15			7		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470779	72470779	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:72470779A>T	uc002jkv.3	+	2	809	c.488A>T	c.(487-489)cAc>cTc	p.H163L	CD300A_uc002jkw.3_Missense_Mutation_p.H50L|CD300A_uc010dfr.3_Missense_Mutation_p.H50L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	163					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGTGCCACCCACAGTGCCAGC	0.552000														59			16		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22690200	22690200	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr10:22690200C>T	uc001iri.3	+	8	1475	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	SPAG6_uc010qct.2_Silent_p.F411F|SPAG6_uc009xkh.3_Silent_p.F414F|SPAG6_uc001irj.3_Silent_p.F436F|SPAG6_uc021poe.1_Silent_p.F162F	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	436					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTGGACAGTTCAGTAAGGTAA	0.368000														25			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249602	140249602	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr5:140249602G>A	uc003lia.2	+	0	1772	c.914G>A	c.(913-915)gGa>gAa	p.G305E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.G305E	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	321	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTCAATGGAACTTTAGAT	0.393000														21			14		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47844930	47844930	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:47844930C>T	uc002pgk.1	+	1	945	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	GPR77_uc010ela.1_Silent_p.L292L|GPR77_uc021uwn.1_Silent_p.L292L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	292					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CATGCTCTTCCTGTATTTTGG	0.652000														58			27		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76419325	76419325	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:76419325C>T	uc003pid.4	+	19	3418	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	SENP6_uc003pie.4_Silent_p.F926F|SENP6_uc010kbf.3_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	933	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCGTCGACTTCTCAGAAGATC	0.358000														31			11		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700863	136700863	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:136700863C>T	uc003vtf.1	+	3	1874	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	CHRM2_uc003vtg.1_Silent_p.I417I|CHRM2_uc003vti.1_Silent_p.I417I|CHRM2_uc003vtm.1_Silent_p.I417I|CHRM2_uc003vtj.1_Silent_p.I417I|CHRM2_uc003vtk.1_Silent_p.I417I|CHRM2_uc003vtl.1_Silent_p.I417I|CHRM2_uc003vtn.1_Silent_p.I417I|CHRM2_uc003vto.1_Silent_p.I417I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.I417I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	417					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CACCTTGCATCCCCAACACTG	0.463000														110			46		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185577	127185577	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:127185577G>A	uc004eum.3	-	0	806	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	203						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTATGCAAGGGAAGTTAAACC	0.537000														68			40		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385680	100385680	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:100385680G>A	uc003uwj.3	+	38	7311	c.7146G>A	c.(7144-7146)agG>agA	p.R2382R	ZAN_uc003uwk.3_Silent_p.R2382R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.R433R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2383	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCGCCCAGGAGCTCCATCT	0.572000														39			25		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968531	87968531	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:87968531C>T	uc011ccz.2	+	3	1119	c.844C>T	c.(844-846)Cca>Tca	p.P282S	AFF1_uc011ccx.2_Missense_Mutation_p.P216S|AFF1_uc003hqh.2_Missense_Mutation_p.P282S|AFF1_uc011ccy.2_Missense_Mutation_p.P282S|AFF1_uc003hqj.4_Missense_Mutation_p.P275S|AFF1_uc003hqk.4_Missense_Mutation_p.P275S|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	275						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCAGACATTTCCACCTCCCTC	0.562000														125			51		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21971127	21971127	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:21971127G>A	uc001rfh.3	-	29	3748	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	ABCC9_uc001rfi.1_Missense_Mutation_p.S1243L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1243	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCAGAATTCGAAGACCCACT	0.408000														79			29		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124511	71124512	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:71124511_71124512GG>AA	uc002ass.3	-	2	1426_1427	c.1355_1356CC>TT	c.(1354-1356)ccc>cTT	p.P452L		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	452					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGAGCAGGGGACTCGTACC	0.624000														88			32		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798249	38798249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:38798249G>A	uc003gtl.3	-	3	2478	c.2204C>T	c.(2203-2205)cCg>cTg	p.P735L	TLR1_uc021xnn.1_Missense_Mutation_p.P735L	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	735	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGAGTACTGCGGAATGGGTTC	0.443000														122			35		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575422	45575423	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:45575422_45575423GG>AA	uc002pao.3	-	2	921_922	c.864_865CC>TT	c.(862-867)agcccc>agTTcc	p.P289S		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	289					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCCATGAGGGGGCTCTGGGGCG	0.698000														41			11		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301138	11301138	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:11301138C>T	uc010hdr.3	+	1	757	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	HRH1_uc010hds.3_Missense_Mutation_p.R139C|HRH1_uc010hdt.3_Missense_Mutation_p.R139C|HRH1_uc003bwb.4_Missense_Mutation_p.R139C|HRH1_uc021wtb.1_Missense_Mutation_p.R139C	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	139					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)	CCTTAAGTATCGTACCAAGAC	0.532000														129			40		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58544043	58544043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr20:58544043C>T	uc002ybe.3	+	1	402	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	31					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGACAGTGTTCAACAGGAAAC	0.323000														56			15		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	377135	377135	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:377135C>T	uc003zgf.2	+	19	2476	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	DOCK8_uc022bcu.1_Silent_p.L720L|DOCK8_uc010mgv.3_Silent_p.L720L|DOCK8_uc010mgu.3_Silent_p.L90L|DOCK8_uc010mgw.2_Silent_p.L90L|DOCK8_uc003zgk.2_Silent_p.L246L|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	788					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGGAGCCGCTCGTGCTCTTCC	0.612000														15			6		0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109193724	109193724	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:109193724G>A	uc001dvt.4	-	5	744	c.506C>T	c.(505-507)cCc>cTc	p.P169L	HENMT1_uc001dvu.4_Missense_Mutation_p.P169L|HENMT1_uc009wer.3_Missense_Mutation_p.P169L	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	169					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGGAAACAGGGGATTGAATTC	0.413000														70			27		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410648	23410648	+	Splice_Site	SNP	G	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chrX:23410648G>T	uc004dal.4	+	3	1021	c.1013_splice	c.e3-1	p.G338_splice		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	338	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCCTCTTAGGTCATGGATTA	0.408000														26			18		3.41278e-10	3.45475e-10	1	1	0
POLR3H	171568	broad.mit.edu	37	22	41936800	41936800	+	Splice_Site	SNP	C	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:41936800C>A	uc003baf.3	-	3	177	c.112_splice	c.e3-1	p.V38_splice	POLR3H_uc003bag.2_Splice_Site_p.V38_splice|POLR3H_uc003bai.2_Splice_Site_p.V38_splice|POLR3H_uc003baj.2_Intron	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) (POLR3H), transcript variant 1, mRNA.	38					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTACACGACCTGCATGCATA	0.517000														72			17		2.48551e-13	2.52588e-13	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196837110	196837110	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:196837110G>A	uc002utj.4	-	15	2015	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	638	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTCGATGAGGAAGGCGAGGC	0.393000														89			29		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812864	14812864	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr9:14812864C>T	uc003zlm.3	-	16	3655	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	947					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)		GAGAACTGATCCACTGTGACT	0.488000														150			55		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539510	62539510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr15:62539510C>T	uc002ajj.1	-	3	363	c.355G>A	c.(355-357)Gag>Aag	p.E119K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		CTCACCTGCTCTGACATCTCC	0.547000														23			7		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706495	96706495	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:96706495G>A	uc010how.1	+	2	815	c.772G>A	c.(772-774)Gat>Aat	p.D258N	EPHA6_uc003drp.1_Missense_Mutation_p.D258N	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	163						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						GGATTTGGGTGATCGCATCCT	0.443000														202			74		0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31584651	31584651	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:31584651A>G	uc003nuy.3	+	5	492	c.418A>G	c.(418-420)Aag>Gag	p.K140E	AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Missense_Mutation_p.K86E	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	140				KEKPTGPPAKKAISELP -> RKTNTPPSQESPI (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CCCCCCAGCCAAGAAAGCTAT	0.478000														48			17		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436256	158436256	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:158436256G>A	uc010pij.2	+	0	905	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCAGCCCTACGAAGAACAATC	0.373000														53			37		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301650	18301650	+	Silent	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr22:18301650G>A	uc002zng.4	-	25	4130	c.3777C>T	c.(3775-3777)ccC>ccT	p.P1259P	MICAL3_uc011agl.2_Silent_p.P1175P	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1259	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGAGCAGATGGGGAGTGGGC	0.692000														23			11		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16033225	16033225	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr19:16033225C>T	uc002nbu.2	-	7	970	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	CYP4F11_uc010eab.1_Missense_Mutation_p.E312K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E312K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	312					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						TCAGACAATTCCTTCCCATCT	0.502000														147			45		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510369	71510369	+	Missense_Mutation	SNP	G	A	A	rs140345705	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:71510369G>A	uc011caw.1	+	8	3507	c.3226G>A	c.(3226-3228)Gat>Aat	p.D1076N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1076					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)			TCCATCTAGCGATGGAAGGCA	0.428000														72			27		0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24303886	24303886	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:24303886C>T	uc002rey.2	-	3	912	c.422G>A	c.(421-423)gGa>gAa	p.G141E	LOC375190_uc002rew.3_Intron|TP53I3_uc002rex.2_Missense_Mutation_p.G141E|TP53I3_uc002rez.2_Missense_Mutation_p.G141E|TP53I3_uc010ykk.2_Missense_Mutation_p.G52E	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	141					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAGTCTCCAGCCTGAAC	0.512000														116			46		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24792231	24792231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:24792231C>T	uc001wow.3	-	17	2640	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	ADCY4_uc010toh.2_Missense_Mutation_p.E427K|ADCY4_uc001wox.3_Missense_Mutation_p.E741K|ADCY4_uc001woy.3_Missense_Mutation_p.E741K	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	741					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	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	p.F740L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTTCAGCTCGAAGCTCATG	0.627000														19			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642116	196642116	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:196642116G>A	uc001gtj.4	+	1	307	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	CFH_uc001gti.4_Missense_Mutation_p.E23K|CFH_uc009wyw.3_Missense_Mutation_p.E23K|CFH_uc009wyx.3_Missense_Mutation_p.E23K	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGATTGCAATGAACTTCCTCC	0.353000														43			15		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791150	8791150	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr7:8791150C>T	uc003srv.3	+	2	1478	c.567C>T	c.(565-567)tcC>tcT	p.S189S	NXPH1_uc011jxh.2_Silent_p.S72S	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	189	V (Cys-rich).					extracellular region		p.S189S(4)|p.D188Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAAAGATTCCAAGTCTTTTA	0.413000														29			6		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178567	214178567	+	Silent	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr1:214178567C>T	uc001hkh.3	+	2	2057	c.1785C>T	c.(1783-1785)acC>acT	p.T595T		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	595					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTTTATACCCGTTATCCCA	0.378000														85			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23861798	23861798	+	Silent	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:23861798T>C	uc001wjv.3	-	24	3386	c.3315A>G	c.(3313-3315)caA>caG	p.Q1105Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1105					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	ATP binding|actin binding|actin-dependent ATPase activity|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)		TCTTCTGTAGTTGAAGGGCCA	0.502000														173			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435608	179435608	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr2:179435608C>T	uc021vsy.1	-	274	67772	c.67547G>A	c.(67546-67548)cGa>cAa	p.R22516Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16211Q|TTN_uc021vta.1_Missense_Mutation_p.R16144Q|TTN_uc021vtb.1_Missense_Mutation_p.R16019Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23443	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R16211Q(1)|p.R16144Q(1)|p.R22514Q(1)|p.R16019Q(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)			TGCGGCATTTCGGGCTATAAC	0.428000														102			31		0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88977295	88977295	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr4:88977295C>T	uc003hre.3	+	7	1861	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	PKD2_uc011cdf.2_Nonsense_Mutation_p.R10*|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	592						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.R592Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AACCATGTCTCGATGTGCCAA	0.408000														103			46		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913400	51913400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr6:51913400C>T	uc003pah.1	-	22	2573	c.2297G>A	c.(2296-2298)gGa>gAa	p.G766E	PKHD1_uc003pai.3_Missense_Mutation_p.G766E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	766					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTTCTGTTCCTTCAGTGGG	0.527000														52			21		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458380	45458380	+	RNA	SNP	T	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr12:45458380T>C	uc001rol.3	-	0		c.815A>G								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TGTTCCAAGGTTGTAAAGTAC	0.537000														22			9		0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73237751	73237751	+	Silent	SNP	C	T	T	rs150145405		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr17:73237751C>T	uc002jni.2	-	8	813	c.774G>A	c.(772-774)aaG>aaA	p.K258K	GGA3_uc002jnk.2_Silent_p.K186K|GGA3_uc002jnj.2_Silent_p.K225K|GGA3_uc010wry.2_Silent_p.K186K|GGA3_uc010wrw.2_Silent_p.K136K|GGA3_uc010wrx.2_Silent_p.K136K|GGA3_uc010wrz.2_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	258	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AAGTCCGCCTCTTGTTCTCAC	0.448000														274			114		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975791	10975791	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:10975791G>A	uc003bvz.3	+	11	1548	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	505					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)		GACATGATTGGCTACCGGCCA	0.532000														61			20		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44607049	44607051	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:44607049_44607051delCTC	uc003cnj.3	+	2	910_912	c.494_496delCTC	c.(493-498)tctcct>tct	p.P167del	ZNF167_uc003cnk.3_In_Frame_Del_p.P167del|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_In_Frame_Del_p.P167del|ZNF167_uc003cni.3_In_Frame_Del_p.P167del|ZNF167_uc010hio.3_In_Frame_Del_p.P17del	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		ACAAAGGAATCTCCTCCTACCTC	0.552													---	142	---	---	11	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	T	T	rs76346895		TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr3:75790810_75790811insT	uc011bgi.2	-	2	457_458	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													---	7	---	---	5	---					
MPPED2	744	broad.mit.edu	37	11	30601881	30601881	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:30601881delT	uc001msr.3	-	0	161	c.40delA	c.(40-42)acgfs	p.T14fs	MPPED2_uc001msq.3_Frame_Shift_Del_p.T14fs|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	14					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TCATCCACCGTTATGGTAACT	0.473													---	42	---	---	29	---					
CD44	960	broad.mit.edu	37	11	35208378	35208396	+	Splice_Site	DEL	GCTCCACCTGAAGAAGATT	-	-			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr11:35208378_35208396delGCTCCACCTGAAGAAGATT	uc001mvu.3	+	4	802	c.368_splice	c.e4-1	p.A123_splice	CD44_uc021qfw.1_Splice_Site_p.A123_splice|CD44_uc001mvv.3_Splice_Site_p.A123_splice|CD44_uc001mvw.3_Splice_Site_p.A123_splice|CD44_uc001mwc.4_Splice_Site_p.A123_splice|CD44_uc001mvx.3_Splice_Site_p.A123_splice|CD44_uc010rer.2_Splice_Site_p.A123_splice|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Splice_Site|CD44_uc010reu.2_5'Flank|CD44_uc010res.2_5'Flank|CD44_uc010ret.2_5'Flank	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	123					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTACCTCATAGCTCCACCTGAAGAAGATTGTACATCAGT	0.352													---	59	---	---	8	---					
abParts	0	broad.mit.edu	37	14	106733154	106733156	+	RNA	DEL	TAA	-	-	rs141629050	by1000genomes	TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr14:106733154_106733156delTAA	uc021ser.1	-	876		c.21390_21392delTTA								Parts of antibodies, mostly variable regions.																		TGTTGCACAGTAATACACGGCCG	0.527													---	428	---	---	103	---					
ATXN2L	11273	broad.mit.edu	37	16	28844621	28844622	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EB-A3Y7-01A-11D-A23B-08	TCGA-EB-A3Y7-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c62908b-2e03-484a-9205-14cd64a69993	b3c25534-f5f1-43b0-8933-ac2c6c9450ce	g.chr16:28844621_28844622insC	uc002dqy.3	+	13	2068_2069	c.1901_1902insC	c.(1900-1902)agcfs	p.S634fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Frame_Shift_Ins_p.S610fs|ATXN2L_uc002dqz.3_Frame_Shift_Ins_p.S634fs|ATXN2L_uc002dra.3_Frame_Shift_Ins_p.S634fs|ATXN2L_uc002drb.3_Frame_Shift_Ins_p.S634fs|ATXN2L_uc002drc.3_Frame_Shift_Ins_p.S634fs|ATXN2L_uc010vdb.2_Frame_Shift_Ins_p.S640fs|ATXN2L_uc002dre.3_Frame_Shift_Ins_p.S634fs|ATXN2L_uc002drf.3_Frame_Shift_Ins_p.S43fs|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	634						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAAACTGGCAGCCCCCCGGTGG	0.629													---	94	---	---	23	---