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
AKR7A3	22977	broad.mit.edu	37	1	19611245	19611245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:19611245delG	uc001bbv.1	-	4	716	c.639delC	c.(637-639)gacfs	p.D213fs		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	213					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATTCTTGTCCTCATACT	0.597												
SLC1A7	6512	broad.mit.edu	37	1	53559217	53559217	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:53559217C>T	uc021onn.1	-	5	881	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	238						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R238C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GTCACCCATGCGGCCCAGCAT	0.617												
ODF2L	57489	broad.mit.edu	37	1	86838137	86838137	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:86838137T>A	uc001dll.2	-	8	1259	c.897A>T	c.(895-897)gaA>gaT	p.E299D	ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	299						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAATCTGTACTTCCAATTCGG	0.259												
SPAG17	200162	broad.mit.edu	37	1	118574428	118574428	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:118574428C>A	uc001ehk.2	-	24	3564	c.3496G>T	c.(3496-3498)Gtt>Ttt	p.V1166F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1166						cilium|flagellar axoneme|microtubule		p.V1165V(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATAACAGGAACCACTGTTGGA	0.353												
FCER1A	2205	broad.mit.edu	37	1	159272655	159272655	+	Missense_Mutation	SNP	G	G	A	rs142162478		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:159272655G>A	uc001ftq.3	+	2	164	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	23						integral to plasma membrane		p.G22V(1)		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)	TCCAGATGGCGTGTTAGCAGG	0.463												
PLA2G4A	5321	broad.mit.edu	37	1	186863266	186863266	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:186863266A>T	uc001gsc.3	+	4	506	c.301A>T	c.(301-303)Act>Tct	p.T101S	PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	101	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.E100*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CATGGATGAAACTCTAGGGAC	0.328												
MIA3	375056	broad.mit.edu	37	1	222833136	222833136	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:222833136A>G	uc001hnl.3	+	21	4876	c.4867A>G	c.(4867-4869)Aga>Gga	p.R1623G	MIA3_uc001hnm.3_Missense_Mutation_p.R501G	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1623					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCAATTTGAGACACAAGTA	0.358												
ARMC4	55130	broad.mit.edu	37	10	28228843	28228843	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:28228843C>T	uc009xky.3	-	13	2178	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	694							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						ATGGCCATGGCGCAGTGCTCC	0.458												
HNRNPF	3185	broad.mit.edu	37	10	43882701	43882701	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:43882701T>C	uc009xmh.1	-	2	1119	c.632A>G	c.(631-633)gAc>gGc	p.D211G	HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	211					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGGGCCGGTCATAGGGCCC	0.592												
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:89717695_89717696insT	uc001kfb.3	+	6	1752_1753	c.720_721insT	c.(718-723)tactttfs	p.Y240fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	240	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PI4K2A	55361	broad.mit.edu	37	10	99426254	99426254	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:99426254G>T	uc001kog.1	+	6	1201	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	382	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGAGATCAAAGATCTGATCCT	0.468												
BTRC	8945	broad.mit.edu	37	10	103190197	103190197	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:103190197C>T	uc001kta.3	+	1	257	c.144C>T	c.(142-144)ctC>ctT	p.L48L	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGCGCACTCACAGCTTTCC	0.527												
DMBT1	1755	broad.mit.edu	37	10	124345651	124345651	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:124345651G>A	uc001lgk.1	+	15	1641	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	512	SRCR 4.				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	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			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)				GTCCTATACCGAGGCTCCTGG	0.592												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5625849	5625849	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:5625849C>A	uc001mbf.3	+	2	856	c.593C>A	c.(592-594)aCa>aAa	p.T198K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	198						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAGAAGAAAACATCCTGGAAG	0.468												
COPB1	1315	broad.mit.edu	37	11	14498486	14498486	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:14498486C>A	uc001mlh.2	-	11	1680	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	478					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACCTGCGGATCTCAGTCATCA	0.373												
KCNA4	3739	broad.mit.edu	37	11	30033178	30033178	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:30033178A>T	uc021qfi.1	-	0	1048	c.1048T>A	c.(1048-1050)Ttg>Atg	p.L350M	KCNA4_uc001msk.3_Missense_Mutation_p.L350M	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	350						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTCAACAACCCACCATGC	0.478												
LRP4	4038	broad.mit.edu	37	11	46900805	46900805	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:46900805T>C	uc001ndn.4	-	20	3119	c.2876A>G	c.(2875-2877)tAt>tGt	p.Y959C		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	959					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|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)		GTCAGTCCAATAGATGCGCTC	0.567												
MS4A15	219995	broad.mit.edu	37	11	60531221	60531221	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:60531221C>T	uc009ynf.1	+	1	235	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	5						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527												
PGA5	5222	broad.mit.edu	37	11	61018718	61018718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:61018718G>A	uc001nqz.3	+	8	1187	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	378					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CTTCGACAGGGCAAACAACCA	0.557												
MMP27	64066	broad.mit.edu	37	11	102573550	102573550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:102573550G>A	uc001phd.1	-	3	576	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	185					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCCGGACCAGGAGGAAAGGCA	0.458												
DSCAML1	57453	broad.mit.edu	37	11	117342628	117342628	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:117342628C>T	uc001prh.1	-	14	3091	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	970	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTTCACTGCGGCCAATCTT	0.587												
DPPA3	359787	broad.mit.edu	37	12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:7869602G>A	uc001qtf.3	+	3	487	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	137						cytoplasm|nucleus		p.V137M(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378												
CLEC4E	26253	broad.mit.edu	37	12	8689778	8689778	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:8689778G>A	uc001quo.1	-	3	470	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	102	C-type lectin.					integral to membrane	sugar binding	p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAAACTTAACGCCCAGGAAAT	0.458												
ABCC9	10060	broad.mit.edu	37	12	21991021	21991021	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:21991021C>T	uc001rfh.3	-	27	3577	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1186	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	p.R1186L(3)		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)	CCTAAAGGCCCGAATGGTGGT	0.423												
ADCY6	112	broad.mit.edu	37	12	49164592	49164592	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49164592C>T	uc001rsh.4	-	18	3873	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1071					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGATGTGCTTCATCTGCT	0.552												
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49221583G>A	uc001rsl.2	+	12	1815	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	452					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622												
TUBA1B	10376	broad.mit.edu	37	12	49523423	49523423	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49523423C>T	uc001rtm.3	-	1	307	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCTGGATGCCGTGTTCCAG	0.582												
KRT1	3848	broad.mit.edu	37	12	53072002	53072002	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:53072002T>C	uc001sau.1	-	2	871	c.812A>G	c.(811-813)gAg>gGg	p.E271G	KRT1_uc001sav.1_Missense_Mutation_p.E271G	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	271	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATTTCATCCTCATACCTGCA	0.403												
TRHDE	29953	broad.mit.edu	37	12	73046818	73046818	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:73046818T>A	uc001sxa.3	+	16	2761	c.2731T>A	c.(2731-2733)Tct>Act	p.S911T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	911					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						GTCACTGAATTCTGAGGTGGT	0.343												
NUDT4	11163	broad.mit.edu	37	12	93792556	93792556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:93792556C>T	uc010sup.2	+	3	666	c.268C>T	c.(268-270)Cga>Tga	p.R90*	NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37*	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	89	Nudix hydrolase.|Substrate binding (By similarity).				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						GAACCAAGACCGAAAGCACAG	0.343												
MTERFD3	80298	broad.mit.edu	37	12	107371336	107371336	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:107371336C>T	uc001tme.1	-	1	2976	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCAGTATGTCATTCTTCAAC	0.358												
WSCD2	9671	broad.mit.edu	37	12	108603986	108603986	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:108603986G>A	uc001tms.3	+	3	1330	c.586G>A	c.(586-588)Gac>Aac	p.D196N	WSCD2_uc001tmt.3_Missense_Mutation_p.D196N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	196	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAGAGTGCGACATGGAGTG	0.682												
TUBA3C	7278	broad.mit.edu	37	13	19752451	19752451	+	Missense_Mutation	SNP	C	C	T	rs145210942		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:19752451C>T	uc009zzj.3	-	2	415	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	104					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGCCTCTGGCGTAATTATTG	0.532												
FLT3	2322	broad.mit.edu	37	13	28636176	28636176	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:28636176C>T	uc001urw.3	-	2	278	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTCAACGCACACCCGAGG	0.532			"""Mis, O"""		"""AML, ALL"""							
SUCLA2	8803	broad.mit.edu	37	13	48571116	48571116	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:48571116C>T	uc001vbs.3	-	1	190	c.133G>A	c.(133-135)Gta>Ata	p.V45I	SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	45					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCTGCTGTACTTGGAGTCCA	0.403												
KLF5	688	broad.mit.edu	37	13	73636601	73636601	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:73636601G>A	uc001vje.3	+	1	1188	c.864G>A	c.(862-864)atG>atA	p.M288I	KLF5_uc001vjd.3_Missense_Mutation_p.M197I	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	288					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CATACACAATGCCAAGTCAGT	0.522												
FOXG1	2290	broad.mit.edu	37	14	29237185	29237185	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:29237185T>G	uc001wqe.3	+	0	899	c.700T>G	c.(700-702)Tcc>Gcc	p.S234A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	234					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCACAATCTGTCCCTCAACAA	0.587												
SIPA1L1	26037	broad.mit.edu	37	14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:72176033G>A	uc001xms.3	+	14	4284	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1308	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537												
AHNAK2	113146	broad.mit.edu	37	14	105413876	105413876	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:105413876C>T	uc010axc.1	-	6	8032	c.7912G>A	c.(7912-7914)Gac>Aac	p.D2638N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2638						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)			ACACCCTTGTCGGCCAGGGAC	0.602												
SPG11	80208	broad.mit.edu	37	15	44858195	44858195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr15:44858195G>A	uc001ztx.3	-	37	6887	c.6856C>T	c.(6856-6858)Cga>Tga	p.R2286*	SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2286					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGGCCTGTCGCACACAGGAG	0.532												
ACSM2A	123876	broad.mit.edu	37	16	20492203	20492203	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:20492203A>T	uc010bwe.3	+	12	1708	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	490					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						GCTGTGGTTGAGACGGCTGTG	0.562												
DNAH3	55567	broad.mit.edu	37	16	21128600	21128600	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:21128600C>T	uc010vbe.2	-	11	1738	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	DNAH3_uc002die.2_Missense_Mutation_p.A520T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	580	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)		TTTTCTTCTGCGTTAACAGTT	0.358												
CHP2	63928	broad.mit.edu	37	16	23768582	23768582	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:23768582C>T	uc002dmb.1	+	5	898	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	159	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CATCGCTGACCGCACGGTGCA	0.577												
SLC38A7	55238	broad.mit.edu	37	16	58709937	58709937	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:58709937C>T	uc002eod.1	-	7	1183	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	264					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTTGAAGACGGGCACACTG	0.572												
ATP2A3	489	broad.mit.edu	37	17	3840720	3840720	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:3840720C>T	uc002fwy.2	-	14	2484	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	771					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGACGACCTCGCCAACATTG	0.602												
C17orf59	54785	broad.mit.edu	37	17	8092644	8092645	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:8092644_8092645CC>AA	uc010vut.2	-	0	920_921	c.814_815GG>TT	c.(814-816)gga>TTa	p.G272L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	272										large_intestine(2)|lung(3)|urinary_tract(1)	6						CACCCGGCCTCCCAGCTCCCGA	0.703												
TAOK1	57551	broad.mit.edu	37	17	27778581	27778593	+	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:27778581_27778593delCAGAGCAGGCAGC	uc002hdz.2	+	1	209_221	c.15_27delCAGAGCAGGCAGC	c.(13-27)aacagagcaggcagcfs	p.N5fs	TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	5					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	0.460												
LAMA1	284217	broad.mit.edu	37	18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	rs141811330		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:6965403C>A	uc002knm.3	-	49	7173	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2360	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTGCCACGAAACAGCTC	0.443												
AFG3L2	10939	broad.mit.edu	37	18	12351333	12351333	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:12351333C>T	uc002kqz.2	-	10	1592	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	466					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGAAACGCCCCGGCCTAAGCA	0.463												
TMPRSS9	360200	broad.mit.edu	37	19	2418090	2418090	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:2418090G>A	uc010xgx.2	+	11	2006	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	669	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTCACAGACCGCATGATCTGC	0.557												
ZNF358	140467	broad.mit.edu	37	19	7585507	7585507	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:7585507G>A	uc002mgn.2	+	1	1549	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	460					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						agctctggccgcaaccctgac	0.667												
ICAM1	3383	broad.mit.edu	37	19	10394191	10394191	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:10394191C>T	uc002mnq.2	+	2	685	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	122					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CACCCCTCCCCTCTTGGCAGC	0.637												
MAN2B1	4125	broad.mit.edu	37	19	12759205	12759205	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:12759205C>G	uc002mub.2	-	20	2524	c.2448G>C	c.(2446-2448)agG>agC	p.R816S	MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	816					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGCAGCCTTCGGTGCA	0.652												
EMR2	30817	broad.mit.edu	37	19	14865775	14865775	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:14865775G>A	uc002mzp.1	-	13	2037	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	527	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGCACATCGTAGTGGGCCA	0.527												
UBA52	7311	broad.mit.edu	37	19	18684505	18684505	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:18684505C>T	uc002njr.3	+	2	251	c.137C>T	c.(136-138)gCc>gTc	p.A46V	UBA52_uc002njs.3_Missense_Mutation_p.A46V|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	46	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						CTGATATTTGCCGGCAAACAG	0.597												
ZNF98	148198	broad.mit.edu	37	19	22575722	22575722	+	Silent	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:22575722T>C	uc002nqt.2	-	3	437	c.315A>G	c.(313-315)caA>caG	p.Q105Q		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F104I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTATCACTTTTTGGAAATAAT	0.299												
GPATCH1	55094	broad.mit.edu	37	19	33585093	33585093	+	Silent	SNP	C	C	T	rs149673951		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:33585093C>T	uc002nug.1	+	4	785	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	157	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTTGGTTTCGAATTGCTAA	0.393												
NPHS1	4868	broad.mit.edu	37	19	36336653	36336653	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:36336653G>A	uc002oby.3	-	12	1831	c.1675C>T	c.(1675-1677)Ccg>Tcg	p.P559S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	559	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTCTCCCGGGCGCAGTGCG	0.622												
PLEKHG2	64857	broad.mit.edu	37	19	39913516	39913516	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:39913516G>A	uc010xuz.2	+	17	2147	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	608					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAACGGGGGCCTTCCCC	0.587												
C5AR1	728	broad.mit.edu	37	19	47823297	47823297	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:47823297C>T	uc002pgj.1	+	1	312	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	88					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCCTGGCGCTGCCCATC	0.602												
SHANK1	50944	broad.mit.edu	37	19	51205832	51205832	+	Missense_Mutation	SNP	G	G	A	rs148526987		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51205832G>A	uc002psx.1	-	10	1658	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	547					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)		AGCTTCCTCCGCCTCCCGCGG	0.711												
CD33	945	broad.mit.edu	37	19	51729289	51729289	+	Missense_Mutation	SNP	G	G	A	rs150408980	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51729289G>A	uc002pwa.2	+	2	689	c.649G>A	c.(649-651)Gct>Act	p.A217T	CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	217	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTGAAGTTCGCTGGAGCTGG	0.622												
PEG3	5178	broad.mit.edu	37	19	57326473	57326473	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57326473C>T	uc002qnu.2	-	6	3688	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	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_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1113					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)		AAGCCCAGGCCACAGTCCTCA	0.488												
ZNF543	125919	broad.mit.edu	37	19	57839653	57839653	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57839653C>T	uc002qoi.2	+	3	1180	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		ACGGCACCAGCGGATTCACAG	0.527												
USP39	10713	broad.mit.edu	37	2	85863233	85863233	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:85863233G>A	uc002sqe.3	+	6	1043	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	336					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCTGGGGGGCACAAAGAAG	0.423												
IGKV2-19	28925	broad.mit.edu	37	2	89434503	89434503	+	Splice_Site	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:89434503G>A	uc021vkt.1	-	44		c.4522_splice	c.e44-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		AAACCCCAACGTCCTCAGCCT	0.507												
TTN	7273	broad.mit.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:179631234G>A	uc021vsy.1	-	40	9802	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3193							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3147*(6)|p.R3193*(5)|p.P3192L(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)			TATTTGTGTCGTTCTTGAACT	0.423												
RSPO4	343637	broad.mit.edu	37	20	948682	948682	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:948682C>T	uc002wej.3	-	1	279	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RSPO4_uc002wek.3_Missense_Mutation_p.R60Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	60					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGCCTTCCCGGCGGATGAA	0.622												
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5283318C>T	uc010zqw.2	-	1	531	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(4)|p.I174N(1)|p.I174I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)		
PROKR2	128674	broad.mit.edu	37	20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	rs146963803	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5294853C>T	uc010zqw.2	-	0	171	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	55						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I54I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)		
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:17434533C>T	uc002wpm.3	+	8	1386	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(2)|p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597												
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:10951332C>T	uc002yip.1	-	9	748	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126Q(1)|p.R126*(1)|p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338												
ITGB2	3689	broad.mit.edu	37	21	46320316	46320316	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:46320316G>A	uc002zgd.2	-	5	860	c.816C>T	c.(814-816)gaC>gaT	p.D272D	ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	272	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCTTCCCGTCGCCCGCGA	0.632												
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433												
ZNF280A	129025	broad.mit.edu	37	22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22868784C>T	uc002zwe.3	-	1	1424	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E391K(2)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453												
AP1B1	162	broad.mit.edu	37	22	29754763	29754763	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:29754763C>A	uc003afj.3	-	4	664	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	159					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGGAAGCCCTGGTCCTCCA	0.597												
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687												
CPT1B	1375	broad.mit.edu	37	22	51008725	51008725	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:51008725G>A	uc003bmm.3	-	16	2238	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	713					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G713G(2)|p.G713S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACTCACAGGGCCAAAGCCAC	0.652												
MKRN2	23609	broad.mit.edu	37	3	12616291	12616291	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:12616291A>G	uc003bxd.3	+	5	699	c.643_splice	c.e5-1	p.I215_splice	MKRN2_uc011aus.2_Splice_Site_p.I172_splice	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	215	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTGCTTCAGATCTGCATGTT	0.542												
MST1R	4486	broad.mit.edu	37	3	49940348	49940348	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:49940348A>T	uc003cxy.4	-	0	959	c.695T>A	c.(694-696)tTt>tAt	p.F232Y	MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	232	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAACGCCACAAAGCCCGGTGC	0.577												
CACNA1D	776	broad.mit.edu	37	3	53837549	53837549	+	Nonsense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:53837549T>G	uc003dgv.4	+	43	5698	c.5535T>G	c.(5533-5535)taT>taG	p.Y1845*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1845					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCAGGAGTATTTCAGTAGTG	0.597												
NPHP3	84129	broad.mit.edu	37	3	132360955	132360955	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:132360955G>C	uc003eov.4	-	3	778	c.398C>G	c.(397-399)aCa>aGa	p.T133R		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGGAATTGTTAAATCACG	0.378												
RNF168	165918	broad.mit.edu	37	3	196229875	196229876	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:196229875_196229876delCG	uc003fwq.3	-	0	764_765	c.169_170delCG	c.(169-171)cggfs	p.R57fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	57					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGACGATACCCGGCGGCGACAG	0.545												
ABCG2	9429	broad.mit.edu	37	4	89053763	89053763	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:89053763G>A	uc003hrg.3	-	2	721	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	76	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCAGGATGGCGTTGAGACCAG	0.393												
UNC5C	8633	broad.mit.edu	37	4	96256705	96256705	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96256705G>C	uc003hto.3	-	1	555	c.202C>G	c.(202-204)Cct>Gct	p.P68A	UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	68	Ig-like.				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)		GCTTCTTCAGGCTCAATAAGG	0.418												
PDHA2	5161	broad.mit.edu	37	4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96762205C>T	uc003htr.4	+	0	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	302					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTATCGTACACGAGAAGAAAT	0.423												
ADAD1	132612	broad.mit.edu	37	4	123317517	123317517	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:123317517T>C	uc003ieo.3	+	6	941	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	237					multicellular organismal development|RNA processing	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						ATTGGCTGCTTTTATAATTGA	0.279												
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:80382758C>T	uc003kha.2	+	8	1426	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532												
SLC22A5	6584	broad.mit.edu	37	5	131729923	131729923	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:131729923G>T	uc003kwx.4	+	10	1969	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	SLC22A5_uc003kww.4_Missense_Mutation_p.G545C	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	545					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTTAAAAGATGGTCAAGAAAG	0.393												
PCDHGC5	56102	broad.mit.edu	37	5	140751480	140751480	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:140751480G>A	uc003ljw.2	+	0	1519	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.V507M|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	509	Cadherin 5.				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)			CTACGTGTCCGTGAGCGCGCG	0.667												
GRM6	2916	broad.mit.edu	37	5	178408768	178408768	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:178408768C>T	uc003mjr.3	-	9	2703	c.2524G>A	c.(2524-2526)Gtc>Atc	p.V842I	GRM6_uc003mjq.3_Missense_Mutation_p.V245I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	842					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AAGAGGATGACGTAGGTTTTG	0.587												
LRFN2	57497	broad.mit.edu	37	6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:40359728C>T	uc003oph.1	-	2	2789	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	775						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)					AAAAGTCCCCCGGGCCCCCAC	0.607												
TTBK1	84630	broad.mit.edu	37	6	43222352	43222352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:43222352C>T	uc003ouq.1	+	5	818	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	180	Protein kinase.					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)			TTCGGGCTGGCCCGGCAGTAC	0.652												
DEFB114	245928	broad.mit.edu	37	6	49928132	49928132	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:49928132C>T	uc011dwp.2	-	1	83	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTGGTGCAACGATCAGCATT	0.353												
SYNJ2	8871	broad.mit.edu	37	6	158483053	158483053	+	Silent	SNP	C	C	T	rs142499089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:158483053C>T	uc003qqx.2	+	7	1090	c.984C>T	c.(982-984)ggC>ggT	p.G328G	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	328	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACGCGGGCGACACGCCTA	0.567												
CARD11	84433	broad.mit.edu	37	7	2953020	2953020	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:2953020G>A	uc003smv.3	-	21	3254	c.2920C>T	c.(2920-2922)Cgc>Tgc	p.R974C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	974	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACGGGCCGGCGGCGCTCGCAG	0.652			Mis		DLBCL							
CCDC129	223075	broad.mit.edu	37	7	31682505	31682505	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:31682505G>A	uc011kae.2	+	10	1611	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532												
AEBP1	165	broad.mit.edu	37	7	44146386	44146386	+	Silent	SNP	G	G	A	rs144974496		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:44146386G>A	uc003tkb.3	+	1	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	165	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55268064	55268064	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268064C>T	uc003tqk.3	+	23	3150	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	968	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCATCGAATTCTCCAAAATGG	0.478		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55268067	55268067	+	Silent	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268067C>G	uc003tqk.3	+	23	3153	c.2907C>G	c.(2905-2907)tcC>tcG	p.S969S	EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	969	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGAATTCTCCAAAATGGCCC	0.483		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:56170668_56170670delGCT	uc003tsa.3	-	2	416_418	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488												
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537												
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:83032082G>A	uc003uhy.2	-	9	1630	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403												
ABCB4	5244	broad.mit.edu	37	7	87074204	87074204	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:87074204A>G	uc003uiv.1	-	9	1169	c.1093T>C	c.(1093-1095)Tat>Cat	p.Y365H	ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	365					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAGATCACATATGCTGCTCCT	0.343												
COL1A2	1278	broad.mit.edu	37	7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	rs72659309		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:94054949G>T	uc003ung.1	+	42	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	937					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G937S(2)|p.P936S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)		
CUX1	1523	broad.mit.edu	37	7	101926060	101926060	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:101926060C>T	uc003uyt.3	+	21	2086	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACCTTCTGCGCCAAGAAGT	0.662												
SVOPL	136306	broad.mit.edu	37	7	138305873	138305873	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:138305873G>A	uc011kqh.2	-	12	1271	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SVOPL_uc003vue.3_Missense_Mutation_p.P272L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	424						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						CATCGTGGTGGGGTAGACCTG	0.587												
EPPK1	83481	broad.mit.edu	37	8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr8:144940353C>T	uc003zaa.1	-	0	7082	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2357						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692												
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr9:107361451_107361452delGC	uc011lvp.2	-	0	243_244	c.243_244delGC	c.(241-246)acgctafs	p.T81fs		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.510												
MAGEB1	4112	broad.mit.edu	37	X	30268850	30268850	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:30268850C>T	uc022buh.1	+	0	240	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	80										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCGAATCTGACGAAGGTGCCA	0.557												
ZNF157	7712	broad.mit.edu	37	X	47272323	47272323	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:47272323G>A	uc004dhr.1	+	3	920	c.851G>A	c.(850-852)cGt>cAt	p.R284H		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	284					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACATTTCGTGTAAAGATA	0.443												
SUV39H1	6839	broad.mit.edu	37	X	48564987	48564987	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:48564987C>T	uc004dkn.3	+	4	1119	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	358	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCGGGCAGGCGAGGAGCTCA	0.592												
ZC3H12B	340554	broad.mit.edu	37	X	64722205	64722205	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:64722205C>A	uc010nko.3	+	4	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	532							endonuclease activity|nucleic acid binding|zinc ion binding	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478												
GPR174	84636	broad.mit.edu	37	X	78427065	78427065	+	Silent	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:78427065C>A	uc004edg.1	+	0	597	c.561C>A	c.(559-561)acC>acA	p.T187T		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	187						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T187fs*3(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTATGATGACCATTGGCGAGT	0.458										HNSCC(63;0.18)		
BRWD3	254065	broad.mit.edu	37	X	79960260	79960260	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:79960260G>A	uc004edt.3	-	22	2901	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	880										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATATTTTACGTGTTGTCTGT	0.368												
NRK	203447	broad.mit.edu	37	X	105156744	105156744	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:105156744T>G	uc004emd.3	+	13	2649	c.2346T>G	c.(2344-2346)atT>atG	p.I782M	NRK_uc010npc.1_Missense_Mutation_p.I450M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	782							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.I782fs*66(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAAAAAATTGAGGTAAATT	0.338										HNSCC(51;0.14)		
DOCK11	139818	broad.mit.edu	37	X	117748723	117748723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:117748723delC	uc004eqp.2	+	28	3228	c.3165delC	c.(3163-3165)agcfs	p.S1055fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1055					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGGATTCAGCCCCAAAGATC	0.343												
MTMR1	8776	broad.mit.edu	37	X	149898608	149898608	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:149898608A>G	uc004feh.1	+	6	718	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	187						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTTATAAACAGGAAGA	0.383												
PLXNB3	5365	broad.mit.edu	37	X	153032873	153032873	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:153032873G>A	uc010nuk.2	+	3	931	c.660G>A	c.(658-660)tcG>tcA	p.S220S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	197	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCTGTCGGCAGGGGTGC	0.716												
