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
UBR4	23352	broad.mit.edu	37	1	19484449	19484449	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:19484449G>A	uc001bbi.3	-	39	5624	c.5620C>T	c.(5620-5622)Cgg>Tgg	p.R1874W	UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1874					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAATTCATCCGCACATTCTCA	0.537												
A3GALT2	127550	broad.mit.edu	37	1	33772995	33772995	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:33772995C>T								ZNF362 (6675 upstream) : PHC2 (16229 downstream)																							CACGCTCTGGCCCGCCATGAA	0.697												
C1orf173	127254	broad.mit.edu	37	1	75038513	75038513	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75038513C>G	uc001dgg.3	-	13	3100	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	961	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGCTGTGTCCTCCATGGGT	0.522												
C1orf173	127254	broad.mit.edu	37	1	75055650	75055650	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75055650C>A	uc001dgg.3	-	11	2060	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448												
NGF	4803	broad.mit.edu	37	1	115828831	115828831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:115828831G>A	uc021osd.1	-	0	586	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	NGF_uc001efu.1_Missense_Mutation_p.H196Y	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	196					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAGTTCCAGTGCTTTGAGTCA	0.517												
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:158641934C>T	uc001fst.1	-	10	1602	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	468					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R468H(2)|p.E467K(1)|p.R468C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438												
FAM5C	339479	broad.mit.edu	37	1	190067205	190067205	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:190067205C>T	uc001gse.1	-	7	2476	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	FAM5C_uc010pot.1_Silent_p.A646A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	748						extracellular region		p.Q747P(1)|p.A748V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGGCATTAAACGCCTGCAGAG	0.423												
OBSCN	84033	broad.mit.edu	37	1	228466482	228466482	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:228466482G>A	uc009xez.1	+	25	6996	c.6952G>A	c.(6952-6954)Gcc>Acc	p.A2318T	OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2318	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGCCAGCGCCCAGGTGCG	0.637												
OR2M4	26245	broad.mit.edu	37	1	248403138	248403138	+	Missense_Mutation	SNP	A	A	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:248403138A>T	uc010pzh.2	+	0	908	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCACTACAGAAGGTACTGAAG	0.398												
VSTM4	196740	broad.mit.edu	37	10	50285318	50285318	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:50285318G>A	uc001jhf.2	-	3	609	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	194						integral to membrane|plasma membrane		p.L193V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCATGAAGAGCAGAATGCTG	0.532												
PTEN	5728	broad.mit.edu	37	10	89717704	89717704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:89717704delC	uc001kfb.3	+	6	1761	c.729delC	c.(727-729)ttcfs	p.F243fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	243	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.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(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)		ACTTTGAGTTCCCTCAGCCGT	0.423		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)		
MRGPRE	116534	broad.mit.edu	37	11	3249597	3249597	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:3249597C>T	uc021qcj.1	-	0	430	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	144						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGTGAGGGCGCACACACAG	0.711												
OR8K3	219473	broad.mit.edu	37	11	56086025	56086025	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:56086025G>A	uc010rjf.2	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACCCAAAATGTTAGTAAATT	0.353												
MAP4K2	5871	broad.mit.edu	37	11	64557670	64557670	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:64557670G>A	uc001obh.3	-	28	2330	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MAP4K2_uc001obi.3_Silent_p.I738I	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	746	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCACAGTCTCGATGGGGAAAT	0.617												
FAM55D	54827	broad.mit.edu	37	11	114453106	114453106	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:114453106C>A	uc001ppc.3	-	2	915	c.734G>T	c.(733-735)aGg>aTg	p.R245M	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	245						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTGAGGCCTCACACAGTA	0.438												
KRT4	3851	broad.mit.edu	37	12	53207484	53207484	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:53207484G>T	uc001saz.3	-	0	581	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	120						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTGGAGGGGGGTGAGCAAGCT	0.587												
OR6C1	390321	broad.mit.edu	37	12	55714593	55714593	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:55714593G>A	uc010spi.2	+	0	210	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAGAAATTTCGTTCACAACCG	0.383												
PAH	5053	broad.mit.edu	37	12	103246614	103246614	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:103246614T>A	uc001tjq.1	-	6	1294	c.821A>T	c.(820-822)aAg>aTg	p.K274M		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	274			K -> E.		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATACATGGGCTTGGATCCATG	0.562												
EXOSC8	11340	broad.mit.edu	37	13	37580266	37580266	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr13:37580266A>C	uc001uwa.3	+	6	624	c.359A>C	c.(358-360)cAg>cCg	p.Q120P	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CAGATAATTCAGAAAGAGGAC	0.318												
FANCM	57697	broad.mit.edu	37	14	45605251	45605251	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:45605251G>A	uc001wwd.4	+	0	116	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	6					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGACGGCAAAGAACGCTTTTT	0.582								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
NAA30	122830	broad.mit.edu	37	14	57858239	57858239	+	Silent	SNP	T	T	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:57858239T>G	uc001xcx.4	+	1	718	c.564T>G	c.(562-564)tcT>tcG	p.S188S	NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	188						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCTGCTGTCTTCGTCCCTGA	0.657												
ACOT2	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:74004293C>T	uc001xol.1	+	0	366	c.168C>T	c.(166-168)acC>acT	p.T56T	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.T56T	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	118					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCGCCGACACCCTTGGCGAGC	0.746												
TSHR	7253	broad.mit.edu	37	14	81610003	81610003	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:81610003G>T	uc001xvd.1	+	9	1757	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	534					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGAAGATCCGCCTCAGGCAC	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism					
IFI27	3429	broad.mit.edu	37	14	94582172	94582172	+	Silent	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:94582172C>G	uc021sba.1	+	3	290	c.167C>G	c.(166-168)gCg>gGg	p.A56G	IFI27_uc001ycn.1_Non-coding_Transcript	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	56					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTCACTGCGGCGGGAATCGCC	0.642												
MGA	23269	broad.mit.edu	37	15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:42032290C>T	uc010ucy.2	+	13	4655	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1492						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGAAACCACGTACCCTGTT	0.532												
LRRK1	79705	broad.mit.edu	37	15	101592102	101592102	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:101592102C>T	uc002bwr.3	+	23	3945	c.3626C>T	c.(3625-3627)cCg>cTg	p.P1209L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1209					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACACCCGGACCTCCCC	0.617												
SALL1	6299	broad.mit.edu	37	16	51171034	51171034	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:51171034C>G	uc021tif.1	-	2	3995	c.3673G>C	c.(3673-3675)Gtc>Ctc	p.V1225L	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1322					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1225L(1)|p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAACTCGTGACGATCTCCTTG	0.592												
GNAO1	2775	broad.mit.edu	37	16	56374784	56374784	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:56374784C>G	uc002eit.4	+	6	1659	c.762C>G	c.(760-762)atC>atG	p.I254M	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	254					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGACAGCATCTGCAACAACA	0.527												
PMFBP1	83449	broad.mit.edu	37	16	72158703	72158703	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:72158703G>A	uc002fcc.4	-	16	2739	c.2567C>T	c.(2566-2568)gCc>gTc	p.A856V	PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	856								p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTTAAGGCGGCCATCTCCTC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GAN	8139	broad.mit.edu	37	16	81390535	81390535	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:81390535A>G	uc002fgo.3	+	3	927	c.779A>G	c.(778-780)gAg>gGg	p.E260G		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	260					cell death	cytoplasm|neurofilament	protein binding	p.G259G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CAGCAAGGGGAGGCGATGCTG	0.493												
FBXO31	79791	broad.mit.edu	37	16	87367838	87367838	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:87367838G>C	uc002fjw.3	-	7	1095	c.1051C>G	c.(1051-1053)Cgg>Ggg	p.R351G	FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	351					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657												
BCL6B	255877	broad.mit.edu	37	17	6929925	6929925	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:6929925C>T	uc010clt.1	+	5	1101	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	BCL6B_uc002geg.2_Missense_Mutation_p.R347C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	347						nucleus	zinc ion binding			skin(1)	1						TGCCAGTCATCGTACAGTGCA	0.582												
MAP2K3	5606	broad.mit.edu	37	17	21208414	21208414	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21208414G>A	uc002gys.3	+	8	1013	c.748G>A	c.(748-750)Gac>Aac	p.D250N	MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	250	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGTCAAGTCCGACGTCTGGAG	0.647												
UBC	7316	broad.mit.edu	37	17	21731067	21731067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731067delC	uc002gyy.3	+	1	494	c.369delC	c.(367-369)ggcfs	p.G123fs				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	275	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.A122V(1)|p.G123A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTTGCAGGCAAGCAGCTGG	0.542												
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542												
LGALS9	3965	broad.mit.edu	37	17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:25974373G>A	uc002gzp.3	+	9	954	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587												
SSH2	85464	broad.mit.edu	37	17	27977712	27977712	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:27977712C>A	uc002heo.1	-	11	1105	c.1105G>T	c.(1105-1107)Gcg>Tcg	p.A369S	SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	369	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTACGCCAGGAGATCC	0.428												
BPTF	2186	broad.mit.edu	37	17	65889772	65889775	+	Frame_Shift_Del	DEL	GACT	GACT	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:65889772_65889775delGACT	uc002jgf.3	+	5	2403_2406	c.2342_2345delGACT	c.(2341-2346)agactgfs	p.R781fs	BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	907					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTACTCTGAGACTGACTATCACC	0.412												
RNF157	114804	broad.mit.edu	37	17	74157723	74157723	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:74157723G>A	uc002jqz.3	-	10	1027	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RNF157_uc002jra.3_Missense_Mutation_p.R320W	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	320							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGTGCCCGGAAGGCTGTG	0.507												
SMAD7	4092	broad.mit.edu	37	18	46447857	46447857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:46447857delG	uc002ldg.3	-	3	1453	c.1166delC	c.(1165-1167)ccgfs	p.P389fs	SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	389	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582												
LMAN1	3998	broad.mit.edu	37	18	57022568	57022568	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:57022568C>A	uc002lhz.3	-	2	486	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	152	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCAAAAGAATCAAAAAATATT	0.353												
LSR	51599	broad.mit.edu	37	19	35741541	35741541	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:35741541C>T	uc002nyl.3	+	1	800	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	193	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTACCAGGGCCGGAGGATTAC	0.642												
ATP4A	495	broad.mit.edu	37	19	36046636	36046636	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:36046636C>T	uc002oal.1	-	12	1977	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	650					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCACTGTCTCGCTGCCTTCC	0.622												
MYT1L	23040	broad.mit.edu	37	2	1926184	1926184	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:1926184C>T	uc002qxe.3	-	9	2184	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	453					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCCATGGCCATCTTCTCC	0.537												
FAM98A	25940	broad.mit.edu	37	2	33810356	33810356	+	Silent	SNP	G	G	A	rs34080556		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:33810356G>A	uc002rpa.1	-	7	1118	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	349	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCGTCCTCCGTATGAGGAAT	0.597												
SNRNP200	23020	broad.mit.edu	37	2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:96957584G>A	uc002svu.3	-	16	2347	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R739W(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557												
ST6GAL2	84620	broad.mit.edu	37	2	107460248	107460248	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:107460248C>T	uc002tdq.3	-	1	305	c.186G>A	c.(184-186)atG>atA	p.M62I	ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	62					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCGGCGCCCATGATGGCCC	0.711												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
TTN	7273	broad.mit.edu	37	2	179454762	179454762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179454762C>T	uc021vsy.1	-	252	54211	c.53986G>A	c.(53986-53988)Gtt>Att	p.V17996I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18923	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACGTTAACGATGGCTGAA	0.428												
TTN	7273	broad.mit.edu	37	2	179584862	179584862	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179584862A>G	uc021vsy.1	-	77	20000	c.19775T>C	c.(19774-19776)aTc>aCc	p.I6592T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7519	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTCTGATGACTTCACC	0.448												
ZDBF2	57683	broad.mit.edu	37	2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:207173138G>A	uc002vbp.2	+	4	4136	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1296							nucleic acid binding|zinc ion binding	p.V1296I(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383												
SPEG	10290	broad.mit.edu	37	2	220346370	220346370	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:220346370G>A	uc010fwg.3	+	27	5533	c.5533G>A	c.(5533-5535)Gca>Aca	p.A1845T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1845	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGACCTACCGCAGAAGAGAC	0.458												
DGKD	8527	broad.mit.edu	37	2	234360642	234360642	+	Missense_Mutation	SNP	G	G	A	rs145038453	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:234360642G>A	uc002vui.1	+	17	2212	c.2200G>A	c.(2200-2202)Ggt>Agt	p.G734S	DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	734					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.G734fs*12(1)|p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCTTACCCGGTGGCTCAGT	0.493												
GPR35	2859	broad.mit.edu	37	2	241569721	241569721	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:241569721G>A	uc010fzi.2	+	5	1317	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	118						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTATGTGGCCGTGCGGCACCC	0.701												
DTYMK	1841	broad.mit.edu	37	2	242617899	242617899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:242617899delG	uc002wbz.2	-	3	681	c.496delC	c.(496-498)cagfs	p.Q166fs	DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.	166					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCATGAGCTGGTGGAAACAC	0.582												
PTGIS	5740	broad.mit.edu	37	20	48140704	48140704	+	Missense_Mutation	SNP	C	C	T	rs45571835		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:48140704C>T	uc002xut.3	-	5	800	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	249					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCGGTGGGCCCGCCTGGCCAG	0.627												
ATP9A	10079	broad.mit.edu	37	20	50225158	50225158	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:50225158T>C	uc002xwg.1	-	24	2644	c.2644A>G	c.(2644-2646)Aca>Gca	p.T882A	ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	882					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGTAAATTGTGGAGTACCTG	0.507												
C20orf20	55257	broad.mit.edu	37	20	61430922	61430922	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:61430922G>A	uc002ydi.3	+	4	613	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	181					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		p.R181W(2)|p.S180S(1)		endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					AAGCGCAGCCGGGTCACCGAC	0.582												
KRTAP10-8	386681	broad.mit.edu	37	21	46032293	46032293	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr21:46032293C>T	uc002zfo.1	+	0	298	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	92	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCACCGACTCCTGCACAC	0.662												
IL17RA	23765	broad.mit.edu	37	22	17589233	17589233	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:17589233T>C	uc002zly.3	+	12	1255	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	375					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCACCGCTGAAGCCCAGG	0.637												
APOBEC3B	200315	broad.mit.edu	37	22	39355652	39355652	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:39355652G>A	uc003awn.2	+	1	305	c.135G>A	c.(133-135)tcG>tcA	p.S45S	APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	228					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATGGCACCTCGGTCAAGATGG	0.532												
MCAT	27349	broad.mit.edu	37	22	43538975	43538975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:43538975G>A	uc003bdl.1	-	0	429	c.380C>T	c.(379-381)gCa>gTa	p.A127V	MCAT_uc003bdm.1_Missense_Mutation_p.A127V	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGCCAGCGATGCCACGAAGAT	0.682												
MST1R	4486	broad.mit.edu	37	3	49940449	49940449	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:49940449G>A	uc003cxy.4	-	0	858	c.594C>T	c.(592-594)taC>taT	p.Y198Y	MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	198	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)		AGGATGCCACGTAGAAATAGG	0.632												
FLNB	2317	broad.mit.edu	37	3	58145402	58145402	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:58145402A>C	uc003djj.2	+	41	7175	c.7010A>C	c.(7009-7011)gAg>gCg	p.E2337A	FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2337	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACGTGTCTGAGCTGGAGCCA	0.572												
OR5H1	26341	broad.mit.edu	37	3	97852262	97852262	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:97852262T>A	uc011bgt.2	+	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTTTCCACCTGTGGAGCCCA	0.408												
CPZ	8532	broad.mit.edu	37	4	8605776	8605776	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:8605776C>T	uc003glm.3	+	3	744	c.570C>T	c.(568-570)taC>taT	p.Y190Y	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	190					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACTCCTACGCCCAGATGG	0.706												
WDR1	9948	broad.mit.edu	37	4	10100717	10100718	+	In_Frame_Ins	INS	-	-	TGCTCC			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:10100717_10100718insTGCTCC	uc021xlv.1	-	3	558_559	c.275_276insGGAGCA	c.(274-276)cac>caGGAGCAc	p.91_92insQE	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	91					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTTCAACAGGTGCTCCTTCTG	0.589												
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:45262443C>T	uc003jok.3	-	7	2278	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	751	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637												
KCNN2	3781	broad.mit.edu	37	5	113740368	113740368	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:113740368C>T	uc003kqo.3	+	2	1273	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	272						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.V272A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTGCCAGAGTCATGCTTTTAC	0.393												
MAT2B	27430	broad.mit.edu	37	5	162932707	162932707	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:162932707G>A	uc003lzk.3	+	0	123	c.15G>A	c.(13-15)gaG>gaA	p.E5E	MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	5					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.M4I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGGGCGGGAGAAAGAGCTCT	0.706											OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC17A1	6568	broad.mit.edu	37	6	25819769	25819769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:25819769G>A	uc003nfh.4	-	4	615	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCGGCCTCGTTCCAGGGGA	0.398												
PGBD1	84547	broad.mit.edu	37	6	28269724	28269724	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:28269724G>A	uc003nky.3	+	6	2513	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	698					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGTCTGTGCTCCAATGCT	0.388												
TREML2	79865	broad.mit.edu	37	6	41166020	41166020	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:41166020G>A	uc010jxm.1	-	1	382	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	68	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGACTCGGGCAAAGCCAGG	0.572												
RPF2	84154	broad.mit.edu	37	6	111329240	111329240	+	Splice_Site	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:111329240G>A	uc003pun.3	+	7	413	c.394_splice	c.e7-1	p.N132_splice	RPF2_uc003puo.3_Splice_Site_p.N69_splice	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	132	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TTTTTTTTTAGAACAGTAAAT	0.259												
AKAP9	10142	broad.mit.edu	37	7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:91674419C>T	uc003ulg.3	+	20	5485	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1766					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423			T	BRAF	papillary thyroid							
PPP1R3A	5506	broad.mit.edu	37	7	113519263	113519263	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:113519263A>G	uc010ljy.1	-	3	1915	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	628					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGATAATCATTCCTCAAAA	0.388												
TRPV6	55503	broad.mit.edu	37	7	142573411	142573411	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:142573411G>A	uc003wbx.2	-	7	1161	c.932C>T	c.(931-933)aCg>aTg	p.T311M	TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	311					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.Q310E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTTCACCGGCGTCTGGTCCAG	0.592												
OR2F1	26211	broad.mit.edu	37	7	143657660	143657660	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:143657660C>T	uc003wds.1	+	0	641	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGGTCACCATCATGGTGTCTA	0.478												
CNTNAP2	26047	broad.mit.edu	37	7	146741054	146741054	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:146741054C>T	uc003weu.2	+	3	974	c.458C>T	c.(457-459)cCg>cTg	p.P153L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	153	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACAGCATCCGATTATTGCC	0.423										HNSCC(39;0.1)		
DLC1	10395	broad.mit.edu	37	8	12946050	12946050	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:12946050T>C	uc003wwm.2	-	15	4682	c.4238A>G	c.(4237-4239)cAg>cGg	p.Q1413R	DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1413	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.Y1412C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGACATACTGGTAAATTTC	0.423												
ADAM2	2515	broad.mit.edu	37	8	39607192	39607192	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:39607192A>G	uc003xnj.3	-	16	1944	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D	ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	623	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACACCTCTATCATTGCATT	0.368												
TTPA	7274	broad.mit.edu	37	8	63985639	63985639	+	Silent	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:63985639T>C	uc003xux.2	-	1	245	c.213A>G	c.(211-213)aaA>aaG	p.K71K		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	71					lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATAATAGTTTTTTAGTAACT	0.338												
REXO1L1P	254958	broad.mit.edu	37	8	86567341	86567341	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:86567341G>T	uc003ydl.1	-	0	565	c.478C>A	c.(478-480)Ctg>Atg	p.L160M		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	517						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						ACGCGGGTCAGCTCCAGGCCA	0.567												
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299	by1000genomes	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:105263256G>A	uc003yls.3	+	26	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)		
CPSF1	29894	broad.mit.edu	37	8	145624415	145624415	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:145624415G>A	uc003zcj.3	-	15	1556	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	494					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCGGCTCGGGGCTGTTCTG	0.692												
FAM75A7	727905	broad.mit.edu	37	9	65507531	65507531	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:65507531G>A	uc004adx.4	-	2	313	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_015667	NP_056482	Q8IWB4	F75A7_HUMAN	Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA.	95						integral to membrane				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AAGCAGGTCCGAAGTCTCCTC	0.627												
PGM5	5239	broad.mit.edu	37	9	70999452	70999452	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:70999452C>A	uc004agr.3	+	2	792	c.563C>A	c.(562-564)cCa>cAa	p.P188Q		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	188					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAATTCAAACCATTCAGAGGT	0.378												
WNK2	65268	broad.mit.edu	37	9	96079849	96079849	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:96079849G>A	uc004ati.1	+	28	6675	c.6675G>A	c.(6673-6675)gcG>gcA	p.A2225A	WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2225					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCCCAGCGCCCGGCCCTC	0.647												
CXorf59	286464	broad.mit.edu	37	X	36103466	36103466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:36103466C>T	uc004ddk.1	+	4	638	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	151						integral to membrane		p.S151S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TCATCAACCTCGCCACCCCAA	0.338												
FAM47C	442444	broad.mit.edu	37	X	37028621	37028621	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:37028621G>T	uc004ddl.2	+	0	2190	c.2138G>T	c.(2137-2139)aGt>aTt	p.S713I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	713										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGGTGTCCAGTCTCCACGCG	0.647												
DGKK	139189	broad.mit.edu	37	X	50146548	50146548	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:50146548C>A	uc010njr.2	-	5	1170	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	376					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458												
MED12	9968	broad.mit.edu	37	X	70342412	70342412	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:70342412G>C	uc004dyy.3	+	8	1502	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	435					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGACAGGCAGTTGAAGTTCG	0.468			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
FGF16	8823	broad.mit.edu	37	X	76711875	76711875	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:76711875C>T	uc011mqp.2	+	1	213	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	162					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						GACAGTATTACGTGGCCCTGA	0.463												
ATP7A	538	broad.mit.edu	37	X	77264612	77264612	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:77264612C>T	uc004ecx.4	+	6	1881	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	ATP7A_uc004ecw.2_Missense_Mutation_p.T574M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	574	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.T574M(3)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGGGGAATGACGTGTGCCTCC	0.388												
TAF7L	54457	broad.mit.edu	37	X	100531023	100531023	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:100531023C>A	uc004ehb.3	-	10	1275	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	417					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGATGAGATCCTTCTGTCTT	0.353												
SRPK3	26576	broad.mit.edu	37	X	153050273	153050273	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:153050273A>G	uc004fik.3	+	17	3940	c.1515A>G	c.(1513-1515)gaA>gaG	p.E505E	SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	439	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					TCGGCGCCGAATACGGCCCCC	0.692												
MTCP1	4515	broad.mit.edu	37	X	154294043	154294043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:154294043G>A	uc004fmz.2	-	2	753	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	43					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCTGGACTCGTGCCCTTAGG	0.458			T	TRA@	T cell prolymphocytic leukemia							
