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
PRAMEF20	645425	broad.mit.edu	37	1	13743092	13743092	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:13743092G>A	uc009voa.1	+	1	380	c.281G>A	c.(280-282)cGt>cAt	p.R94H		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGGGTTCGTCTCAGGTGA	0.607												
HTR1D	3352	broad.mit.edu	37	1	23520158	23520158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:23520158C>T	uc001bgn.3	-	0	1065	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	185					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACAGTCCGACATCTCCTCCT	0.592												
MTF1	4520	broad.mit.edu	37	1	38305766	38305766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:38305766C>T	uc001cce.1	-	2	614	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	158						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGTGGGTTCGCAGGTTGCC	0.527												
IL12RB2	3595	broad.mit.edu	37	1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	rs141507006		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:67861543C>T	uc001ddu.3	+	15	3000	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	787					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.T787T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCCCTGGACGGTGCTCCCA	0.582												
LRRC8D	55144	broad.mit.edu	37	1	90400304	90400304	+	Silent	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:90400304C>G	uc021opq.1	+	0	1677	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	559						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTATTTGCTCAAAAACCTTC	0.418												
C1orf85	112770	broad.mit.edu	37	1	156264001	156264001	+	Silent	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156264001T>A	uc001foh.3	-	3	619	c.606A>T	c.(604-606)cgA>cgT	p.R202R	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	202					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTTGGGCTGGTCGGCTGGACC	0.592												
NTRK1	4914	broad.mit.edu	37	1	156841494	156841494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156841494G>A	uc001fqh.1	+	6	853	c.797G>A	c.(796-798)tGg>tAg	p.W266*	NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	266	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGACGTGCTGGGCAGAGAAC	0.592			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)		
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:158592861G>A	uc001fst.1	-	42	6231	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2011					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.A2011V(12)|p.A2011A(2)		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)					CAGCAGAGCGGCATAACGCTC	0.483												
SIPA1L2	57568	broad.mit.edu	37	1	232574923	232574923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:232574923G>A	uc001hvg.3	-	12	4120	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1321	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGATGGTGGACGCGTAGCC	0.602												
SORBS1	10580	broad.mit.edu	37	10	97096883	97096883	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr10:97096883C>G	uc001kkp.3	-	27	3079	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1012					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAAGCCTCTGGCAGAGGA	0.607												
OR10Q1	219960	broad.mit.edu	37	11	57996044	57996044	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:57996044C>T	uc010rkd.2	-	0	347	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G102V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ATTTGGGCCCCACATCCAGCC	0.547												
GAB2	9846	broad.mit.edu	37	11	77934481	77934481	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:77934481C>T	uc001ozh.3	-	5	1646	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	GAB2_uc001ozg.3_Missense_Mutation_p.R477H	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	515					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGAGGTTGCGGTTGACAGG	0.547												
PDGFD	80310	broad.mit.edu	37	11	103797801	103797801	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:103797801T>C	uc001phq.3	-	5	1198	c.826A>G	c.(826-828)Aat>Gat	p.N276D	PDGFD_uc001php.3_Missense_Mutation_p.N270D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	276					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACCGAGTAATTCCTGGGAGTG	0.478												
CD163	9332	broad.mit.edu	37	12	7639374	7639374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:7639374G>A	uc001qsz.3	-	9	2307	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	727	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCACAGCGACCTCCTCCA	0.458												
GUCY2C	2984	broad.mit.edu	37	12	14840978	14840978	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:14840978G>A	uc001rcd.3	-	1	374	c.237C>T	c.(235-237)aaC>aaT	p.N79N	GUCY2C_uc009zhz.2_Silent_p.N79N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	79					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGAAAGTAGCGTTCACAGTCA	0.433												
RERGL	79785	broad.mit.edu	37	12	18237578	18237578	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:18237578G>T	uc001rdq.3	-	4	402	c.208C>A	c.(208-210)Ctc>Atc	p.L70I		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	70	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTTGTGAGGGAGAATTTT	0.383												
C12orf40	283461	broad.mit.edu	37	12	40114778	40114778	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114778A>G	uc001rmc.3	+	12	1851	c.1684A>G	c.(1684-1686)Aat>Gat	p.N562D	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	562								p.N562D(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTGAAAAATAATACAGATCA	0.393												
C12orf40	283461	broad.mit.edu	37	12	40114932	40114932	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114932A>G	uc001rmc.3	+	12	2005	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	613										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTTGCCATACAGTGTGATCTA	0.408												
C12orf40	283461	broad.mit.edu	37	12	40114983	40114983	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114983A>C	uc001rmc.3	+	12	2056	c.1889A>C	c.(1888-1890)aAc>aCc	p.N630T	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	630								p.N630S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTCTTTGCAACCTTGAAAGG	0.363												
SLC2A13	114134	broad.mit.edu	37	12	40153845	40153845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40153845C>T	uc010skm.2	-	9	1981	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	644						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACATCAGAAGCATCATTGTCA	0.383										HNSCC(50;0.14)		
HOXC5	3222	broad.mit.edu	37	12	54427115	54427115	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:54427115A>C	uc001sew.3	+	0	284	c.209A>C	c.(208-210)cAc>cCc	p.H70P	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	70					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H70P(2)|p.A69D(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCCCGGGCTCACCCCGACCGC	0.672												
R3HDM2	22864	broad.mit.edu	37	12	57677642	57677642	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:57677642C>G	uc009zpm.1	-	10	1129	c.1094G>C	c.(1093-1095)aGt>aCt	p.S365T	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	365	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGCCTTTACTGCTGCCGAT	0.532												
PTPRR	5801	broad.mit.edu	37	12	71286523	71286523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:71286523G>A	uc001swi.2	-	1	707	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	98					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACCATCCATGGCCAGCAGATT	0.458												
MYF5	4617	broad.mit.edu	37	12	81110965	81110965	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:81110965G>A	uc001szg.2	+	0	258	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	41					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617												
ALX1	8092	broad.mit.edu	37	12	85695019	85695019	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:85695019G>A	uc001tae.4	+	3	751	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	249					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTCCTGTATGACACCTTATT	0.453												
HAL	3034	broad.mit.edu	37	12	96389510	96389510	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:96389510C>T	uc001tem.1	-	1	476	c.179G>A	c.(178-180)gGc>gAc	p.G60D	HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	60					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCAGGCCCTTGCACCG	0.642												
KL	9365	broad.mit.edu	37	13	33629339	33629339	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:33629339T>C	uc001uus.3	+	2	1494	c.1486T>C	c.(1486-1488)Ttc>Ctc	p.F496L	KL_uc001uur.1_Missense_Mutation_p.F189L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	496	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCAGCCTTGTTCTACCAAAA	0.463												
MYO16	23026	broad.mit.edu	37	13	109859183	109859183	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:109859183G>A	uc010agk.2	+	34	6264	c.5642G>A	c.(5641-5643)tGa>tAa	p.*1881*	MYO16_uc001vqt.1_Silent_p.*1859*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	0					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCACCATTTGATGTGGCCTG	0.572												
OR5AU1	390445	broad.mit.edu	37	14	21623219	21623219	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:21623219G>A	uc010tlp.2	-	0	966	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAACTGTGCGGTCCTGGGTCA	0.493												
HEATR5A	25938	broad.mit.edu	37	14	31782317	31782317	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:31782317C>T	uc001wrf.4	-	27	4483	c.4298G>A	c.(4297-4299)aGa>aAa	p.R1433K	HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1427							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGATCCATTTCTGATACCGTC	0.398												
SRP54	6729	broad.mit.edu	37	14	35470222	35470222	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:35470222T>C	uc001wso.3	+	3	602	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	84	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAACTTGTGAAGGTAAAA	0.313												
SPINT1	6692	broad.mit.edu	37	15	41137192	41137192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr15:41137192G>A	uc001zna.3	+	1	644	c.440G>A	c.(439-441)cGc>cAc	p.R147H	SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	147						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAAGTGTACCGCTCCTACCGC	0.582												
TPSAB1	7177	broad.mit.edu	37	16	1291199	1291199	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:1291199A>G	uc002ckz.3	+	2	159	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	36	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGGGGTCAGGAGGCCCCCAGG	0.711												
MYH11	4629	broad.mit.edu	37	16	15813552	15813552	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:15813552G>C	uc002ddx.3	-	35	5100	c.4993C>G	c.(4993-4995)Caa>Gaa	p.Q1665E	MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1658					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCTCTTTGAAAGTCCTTC	0.517			T	CBFB	AML							
SMG1	23049	broad.mit.edu	37	16	18830977	18830977	+	Splice_Site	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:18830977C>T	uc002dfm.3	-	56	10105	c.9742_splice	c.e56-1	p.E3248_splice	SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3248					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGCTTCTCCTATAAAAGCC	0.413												
DNAH3	55567	broad.mit.edu	37	16	21123036	21123036	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:21123036G>A	uc010vbe.2	-	13	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	DNAH3_uc002die.2_Silent_p.A610A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	670	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGATTTAGGGCCGTAGCAT	0.418												
PRKCB	5579	broad.mit.edu	37	16	24166173	24166173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:24166173A>G	uc002dmd.3	+	9	1431	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	PRKCB_uc002dme.3_Missense_Mutation_p.T412A	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	412	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGCTTCCAGACCATGGTAAC	0.582												
OR3A2	4995	broad.mit.edu	37	17	3181702	3181702	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:3181702G>C	uc002fvg.3	-	0	567	c.528C>G	c.(526-528)aaC>aaG	p.N176K		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	176					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGCCACAGAAGTTGAGCGTGG	0.567												
KRT40	125115	broad.mit.edu	37	17	39140113	39140113	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:39140113C>T	uc010cxh.1	-	2	574	c.413G>A	c.(412-414)cGt>cAt	p.R138H	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	138	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.R138P(2)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483												
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308												
SERPINB3	6318	broad.mit.edu	37	18	61309010	61309010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr18:61309010G>A	uc002ljf.3	-	3	421	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	112					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T112T(2)|p.T112M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAATTGATACGTCTTTTCTCC	0.423												
BEST2	54831	broad.mit.edu	37	19	12863444	12863444	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:12863444G>A	uc002mux.3	+	0	38	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	13					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGAACGCCCGCTTCGGTGGC	0.657												
SLC35E1	79939	broad.mit.edu	37	19	16664592	16664592	+	Silent	SNP	G	G	A	rs139815009		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:16664592G>A	uc010xph.2	-	5	1149	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	MED26_uc002nee.2_Non-coding_Transcript	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	377					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATAGTCCCCGTGCTGGGGGA	0.582												
FCGBP	8857	broad.mit.edu	37	19	40411954	40411954	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:40411954T>C	uc002omp.4	-	6	3682	c.3674A>G	c.(3673-3675)gAg>gGg	p.E1225G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1225	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGAGGACTCACAGGACAC	0.677												
CYP2B6	1555	broad.mit.edu	37	19	41515193	41515193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:41515193C>T	uc002opr.1	+	4	722	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	239					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAAAAACCTGCAGGAAATCAA	0.522												
APOB	338	broad.mit.edu	37	2	21229086	21229086	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21229086C>G	uc002red.3	-	25	10782	c.10654G>C	c.(10654-10656)Gga>Cga	p.G3552R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3552					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGGCTTCTCCAGCAAAATTT	0.443												
APOB	338	broad.mit.edu	37	2	21245793	21245793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21245793G>A	uc002red.3	-	17	2854	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	909	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCAGACCCGACTCGTGGAA	0.498												
NEB	4703	broad.mit.edu	37	2	152476016	152476016	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:152476016G>A	uc021vrb.1	-	67	10121	c.10092C>T	c.(10090-10092)ccC>ccT	p.P3364P	NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3364					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGGTCGGGCAGGCAGA	0.483												
ZNF142	7701	broad.mit.edu	37	2	219509392	219509392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:219509392C>T	uc002vin.3	-	7	2283	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W616L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCATGGCCCCTTCTGGCTC	0.607												
ASB18	401036	broad.mit.edu	37	2	237103656	237103656	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:237103656G>A	uc010znh.2	-	5	1260	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	420	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGCAGCGTGGGGTGAGGGCCA	0.557												
BPIFA3	128861	broad.mit.edu	37	20	31811632	31811632	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:31811632T>C	uc002wyr.3	+	1	351	c.143T>C	c.(142-144)cTc>cCc	p.L48P	BPIFA3_uc002wys.3_Missense_Mutation_p.L48P	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	48						extracellular region	lipid binding										GCTCAGGGCCTCATAAAGCAC	0.552												
CASS4	57091	broad.mit.edu	37	20	55021057	55021057	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:55021057G>A	uc002xxp.2	+	4	786	c.561_splice	c.e4+1	p.K187_splice	CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	187					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGTCCTGAAGGTGAGCCTTG	0.622												
SCN10A	6336	broad.mit.edu	37	3	38743393	38743393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:38743393G>A	uc003ciq.3	-	25	4594	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTAGTACTGCCTCAAAGCG	0.483												
CCR5	1234	broad.mit.edu	37	3	46414869	46414869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:46414869C>T	uc003cpo.4	+	2	598	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	159					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTGTGTTTGCGTCTCTCCCA	0.468												
SEMA3G	56920	broad.mit.edu	37	3	52469856	52469856	+	Silent	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:52469856C>T	uc003dea.1	-	15	2112	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	704					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGTACCAGGCCTTGGGTGGGG	0.642												
EAF2	55840	broad.mit.edu	37	3	121573665	121573665	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:121573665A>T	uc003een.3	+	2	432	c.333A>T	c.(331-333)aaA>aaT	p.K111N	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	111					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTGTAAAAAAAACAAGGTATG	0.254												
MBNL1	4154	broad.mit.edu	37	3	152163096	152163096	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:152163096A>T	uc003ezm.3	+	3	1364	c.575A>T	c.(574-576)aAt>aTt	p.N192I	MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	192					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACGTGGCAATTGCAACCGA	0.403												
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
TXK	7294	broad.mit.edu	37	4	48106929	48106929	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:48106929A>G	uc003gxx.4	-	5	576	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	TXK_uc003gxy.1_Silent_p.L164L	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	164	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTTGTCTCAATAGATGTTCT	0.254												
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:77283442C>A	uc003hkb.4	-	11	2010	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393												
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:13871097C>T	uc003jfd.2	-	23	3655	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1205	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome			
HEATR7B2	133558	broad.mit.edu	37	5	41051145	41051145	+	Silent	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:41051145T>C	uc003jmj.4	-	12	1768	c.1278A>G	c.(1276-1278)gaA>gaG	p.E426E	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	426							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCGGACAGATTCCTCTTCCT	0.423												
PCDHAC2	56145	broad.mit.edu	37	5	140181903	140181903	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:140181903T>C	uc003lhf.2	+	0	1121	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCAGCGTGTCCGACCGC	0.483												
GLRA1	2741	broad.mit.edu	37	5	151230995	151230995	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:151230995T>A	uc003lut.3	-	6	1155	c.868A>T	c.(868-870)Acc>Tcc	p.T290S	GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	290					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTCATGGTGAGCACAGTG	0.547												
ZNF165	7718	broad.mit.edu	37	6	28056507	28056507	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:28056507A>G	uc021yro.1	+	3	1544	c.717A>G	c.(715-717)aaA>aaG	p.K239K	ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	239					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATGGGAAAAAGAATCAGGGG	0.433												
SLC26A8	116369	broad.mit.edu	37	6	35922972	35922972	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:35922972A>T	uc003olm.3	-	16	2300	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	730	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAGTGTACCATGGAGAAATC	0.547												
EPM2A	7957	broad.mit.edu	37	6	145948736	145948736	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:145948736C>T	uc003qkw.3	-	3	1169	c.812G>A	c.(811-813)gGc>gAc	p.G271D	EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	271	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GGTGGAGCGGCCCACCCCAGC	0.632												
C7orf10	79783	broad.mit.edu	37	7	40899925	40899925	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899925G>C	uc022acd.1	+	14	1287	c.1263G>C	c.(1261-1263)gtG>gtC	p.V421V	C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	395							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GCCCAGCTGTGAGATACAGTA	0.527												
C7orf10	79783	broad.mit.edu	37	7	40899950	40899950	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899950G>C	uc022acd.1	+	14	1312	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	404							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGATGTCAGAGGCCAGGCC	0.552												
STEAP4	79689	broad.mit.edu	37	7	87912074	87912074	+	Missense_Mutation	SNP	C	C	A	rs79363691		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:87912074C>A	uc022agz.1	-	3	1089	c.866G>T	c.(865-867)tGc>tTc	p.C289F	STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	289	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGCTTTCGGCAAAGCATCCA	0.478												
EZH2	2146	broad.mit.edu	37	7	148506237	148506237	+	Silent	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:148506237A>T	uc003wfd.2	-	18	2299	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	702	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATCACCGTTAACCATCATAA	0.443			Mis		DLBCL							
ZFHX4	79776	broad.mit.edu	37	8	77766549	77766549	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr8:77766549G>A	uc003yau.2	+	9	7779	c.7392G>A	c.(7390-7392)tcG>tcA	p.S2464S	ZFHX4_uc003yaw.1_Silent_p.S2419S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2448S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCTCCCTCGGCCTCTCAAA	0.537										HNSCC(33;0.089)		
IARS	3376	broad.mit.edu	37	9	95050515	95050515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:95050515C>T	uc004art.1	-	2	426	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	57					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTATATGTCCATAGTGAGGC	0.368												
DNM1	1759	broad.mit.edu	37	9	130965824	130965824	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:130965824G>A	uc022bob.1	+	0	162	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	25					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCATCGGCCAGAACGCGGACC	0.692												
CDKL5	6792	broad.mit.edu	37	X	18622176	18622176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:18622176C>G	uc004cym.3	+	11	1385	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	378					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TAGTCTTAGTCCACTGCACAC	0.522												
PHEX	5251	broad.mit.edu	37	X	22051086	22051086	+	Translation_Start_Site	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:22051086A>T	uc004dah.3	+	0					PHEX_uc011mjr.2_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AACCACGAAAAGTGACTTTCT	0.502												
DCAF8L1	139425	broad.mit.edu	37	X	27998447	27998447	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:27998447G>C	uc004dbx.1	-	0	1120	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	335								p.V335V(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418												
CXorf22	170063	broad.mit.edu	37	X	35966473	35966473	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:35966473T>A	uc004ddj.3	+	3	626	c.560T>A	c.(559-561)aTt>aAt	p.I187N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	187										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCATCCTCATTTTTCCAACT	0.403												
OTC	5009	broad.mit.edu	37	X	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	rs68026851		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:38260563G>C	uc004def.4	+	4	636	c.422G>C	c.(421-423)cGa>cCa	p.R141P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378												
MAOB	4129	broad.mit.edu	37	X	43626865	43626865	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:43626865C>G	uc004dfz.4	-	15	1587	c.1411_splice	c.e15-1	p.D471_splice	MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	471					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCAGGGACATCCTAGGTTCAG	0.493												
ATRX	546	broad.mit.edu	37	X	76938530	76938530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:76938530C>A	uc004ecp.4	-	8	2450	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	740			E -> G (in dbSNP:rs1051680).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTCACCTCTTTGAGGATT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
RPL36A-HNRNPH2	6173	broad.mit.edu	37	X	100646547	100646547	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:100646547C>T	uc022cag.1	+	1	258	c.212C>T	c.(211-213)gCc>gTc	p.A71V	RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.A71V|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.A35V	NM_001199973	NP_001186902			Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.																		TCTCTGTACGCCCAGGGTAAG	0.483												
